Partial Empty Sella Research Articles

Arginine vasopressin deficiency (central diabetes insipidus) with partial empty sella: a case report

BackgroundArginine vasopressin deficiency (central diabetes insipidus) is defined as a reduction in the release of arginine vasopressin (AVP) resulting in a variable degree of polyuria. Partial empty sella refers to an enlarged sella turcica that is not completely filled by pituitary gland. It can be either primary or secondary and its manifestation ranges from asymptomatic cases to isolated posterior pituitary, isolated anterior pituitary or both anterior and posterior pituitary dysfunctions. Diabetes insipidus caused by a partially empty sella is rare.Case presentationThe patient, an 18-year-old Ethiopian woman who presented with long standing headache, increased urination, increased thirst, absence of menses and weight loss. Urine and serum osmolality was done and suggested diabetes insipidus. On further workup, brain magnetic resonant imaging was done and partially empty sella was diagnosed.ConclusionDiabetes insipidus secondary to partially empty sella is uncommon. In patients presenting with headache and anterior or posterior pituitary dysfunction, empty sella should be considered, whether partial or complete.

6939 Do an empty sella and a partial empty sella affect the modeling and displacement of the optic chiasm?

Abstract Disclosure: B. Kaluza: None. M. Furmanek: None. J. Domanski: None. A. Zuk-Lapan: None. E. Babula: None. P. Iga: None. M. Landowska: None. K. Jarzabek: None. J. Popczynska: None. P. Filipowicz: None. M. Wielgolewska: None. J. Walecki: None. E.M. Franek: None. An empty sella and a partial empty sella are a result of the bulging of the subarachnoid space into the sella turcica. Primary empty sella has no tangible cause, while secondary empty sella is due to a pathology in the central nervous system, which may be manifested as visual disorders occurring via optic chiasm modeling or displacement. The aim of the study was to determine whether an empty sella and a partial empty sella, both primary and secondary, were the risk factors for modeling the optic chiasm. In order to conduct the study, the hospital database was analyzed and 891 patients who had undergone pituitary and CNS MRI were selected. An empty sella and a partial empty sella were confirmed in 212 patients, of which 157 patients had a primary and 55 had a secondary form. Compression and modeling of the optic chiasm were found in 29 patients. Univariate logistic regression showed that the predictors of compression and modeling of the optic chiasm included: the presence of a pituitary adenoma (OR 2.275, 95% Cl 1.083-4.779, p=0.03) - especially macroadenoma (OR 29.472, [10.751-80.789], p=0.0001) and a status post CNS surgery (OR 10.226, [1.031-101.418], p=0.047). Conversely, an empty and partial empty sella (OR 1.02, [0.429-2.422], p=0.965) - both primary (0.741, [0.254-2.161], p= 0.584) and secondary (1.193, [0.353-4.034], p=0.776), as well as Rathke cleft cyst (OR 0.517,[0.121-2.206], p=0.373) and a pituitary cyst (OR 0.789, [0.184-3.383], p=0.749) were not found to play such a role. An empty and partial empty sella do not affect the modeling and displacement of the optic chiasm, so they may not contribute to visual symptoms such as the narrowing the visual field and diplopia. Presentation: 6/3/2024

8168 From Salt to the Sella- Discovering Empty Sella Syndrome as a Rare Cause of Severe Hyponatremia

Abstract Disclosure: P. Vemparala: None. S. Challagulla: None. Introduction: Hyponatremia is a common electrolyte disorder with potentially life-threatening consequences. Careful evaluation of hyponatremia can uncover significant underlying conditions. We present an interesting case of a patient who presented with symptoms of severe hyponatremia and a workup led us to the discovery of empty sella syndrome as the etiology. Case Presentation: A 54-year-old male with hypertension presented with 2 days of left-sided headache, blurred vision, generalized weakness, and vomiting. Pertinent medication history revealed the use of thiazide diuretic, bupropion and varenicline. Physical examination was unremarkable. Laboratory data showed severe hyponatremia with a serum sodium of 118 meq/L. Initial improvement with fluids was followed by a decline (106-112 meq/L). CT head without contrast showed a prominent empty sella turcica. Workup revealed urine osmolality and elevated urine sodium. A low AM cortisol level of 1.0 mcg/dl (reference range- AM- 7.0 - 25.0 mcg/dl), and decreased adrenocorticotropic hormone (ACTH) level of 5.2 pg/ml (reference range- 7.2 - 63.3 pg/ml) suggested secondary adrenal insufficiency. All other anterior pituitary hormones were normal. Brain magnetic resonance imaging (MRI) confirmed the diagnosis of partial empty sella. Treatment with hypertonic saline, fluid restriction, and steroids led to symptom resolution. Conclusion: Empty sella syndrome is a rare pituitary condition that can be primary- characterized by herniation of the subarachnoid space within the sella, or secondary- which occurs when the sella is empty due to damage to the pituitary gland by tumor, radiation, etc. It can cause potential hypopituitarism, be asymptomatic, or present with symptoms of raised intracranial pressure. In patients with hypopituitarism, deficiencies of ACTH and TSH are rarer and appear to be more common with a complete empty sella. This case emphasizes the need for a comprehensive hyponatremia workup, awareness of secondary adrenal insufficiency, and recognition of the life-threatening potential of even partial empty sella syndrome when untreated. Presentation: 6/1/2024

7815 Pembrolizumab-Induced Autoimmune Hypophysitis with “Isolated” ACTH Deficiency: Need for Heightened Awareness and Action Among Medical Fraternity

Abstract Disclosure: S. Shankar: None. S.S. Sundar: None. M.S. Vaishnav: None. L. Lekkala: None. K. Thummala: None. S. Srikanta: None. T. Deepak: None. R.B. Vijay: None. K. Muniraj: None. V. Nath: None. C. Siddlingappa: None. P. Ravikumar: None. M.D. Chitra: None. Introduction: Autoimmune hypophysitis caused by immune checkpoint inhibitors [ICIs; anti-CTLA-4 (Ipilimumab alone 7.9%), anti-PD-1 (Pembrolizumab alone 1.7%; nivolumab alone 0%)] are being increasingly documented, with anterior hypopituitarism affecting corticotrophs more commonly than thyrotrophs and gonadotrophs (large time span of onset; different recovery patterns). Clinical Case 2021 Sep Age 65 years (type 2 diabetes, hypertension). Renal Cell Carcinoma S/P radical nephrectomy. 2023 Jul PET-CT= Metastatic pleuropulmonary nodules. Four admissions to Specialist Oncology Hospital [Four 2 weekly cycles of Inj Pembrolizumab 200 mg (with Tab Axitinib 10 mg/day)]. After first cycle: progressive fatigue, body aches, drowsiness. S Sodium= Pre-pembrolizumab= 137 mEq/L (135-145); Post-pembrolizumab= 124, 134, 132, 124; T3= 1.63 to 0.60 to 1.24 to 1.35 ng/mL (0.97-1.69); T4= 6.83 to 4.93 to 10.44 to 11.44 mcg/dL (5.53-11); TSH= 10.46 to 6.28 to 5.39 to 9.48 mIU/mL (0.46-4.68); S Cortisol 8 am= 1.54 mcg/dL (5-25); S Potassium= 4.59 mEq/dL (3.5-5.1)]. One episode of loss of consciousness; EEG= abnormal; MRI Brain= normal. During every hospital admission, oncology, medical, endocrinology and nephrology teams attributed the same to “illness” (no specific diagnosis) and provided symptomatic treatment (IV 3% saline, tolvaptan and sodium bicarbonate tablets).2023 Nov Medicine: Very severe nausea, anorexia, generalised weakness, myalgia, hiccoughs, and inability to walk. Frustrated family members sought admission in “new” General Hospital. S Sodium= 119, 120; S Potassium= 4.8; S Creatinine= 1.67 mg/dL (0.7-1.3); S Uric acid= 4.5 mg/dL (4.40-7.60); Urine spot Sodium= 84 mmol/L; ESR= 144 mm. Endocrinology: S Cortisol 8 am= 0.09 mcg/dL;S Cortisol post 250 mcg Inj Synacthen= 3.76 (>20);Plasma ACTH= 5.4 pg/ml (9-52). S T3= 1.35; S T4= 11.44; S TSH= 9.48; LH= 3.61mIU/mL (1.5-9.3); FSH= 1.4mIU/mL (1.4-18.1); PRL= 30.1 (2.6-13.3); Testosterone total= 314 ng/dL (241-827); TPO antibodies negative. MRI-Pituitary: Partial empty sella; infundibulum neurohypophysis normal; mild asymmetric enhancement (5.5 mm) left cavernous sinus. Treatment: Tab Hydrocortisone 25 mg/day, with complete clinical and biochemical response [Suggestion of gonadotroph dysfunction and partial recovery of thyrotrope dysfunction/ injury. Hence, not on thyroxine replacement]. Clinical Lessons: Mechanisms for differential cellular vulnerability for ICI induced autoimmune pathologies [thyroid (destructive versus stimulatory), islet beta cells, adrenal cortical cells, various anterior pituitary cells (corticotrophs vs thyrotrophs and gonadotrophs] need elucidation. Specific molecular and cellular immunopathogenic pathways in different autoimmune endocrinopathies appear distinct and disparate. Presentation: 6/2/2024

7648 Bilateral Adrenal Hemorrhage After Laminectomy: A Rare Complication

Abstract Disclosure: M. Rizk: None. S. Sharma: None. H. Qadeer: None. R. Paudel: None. C. Sherpa: None. Introduction: Bilateral Adrenal Hemorrhage (BAH) is an exceedingly uncommon complication of laminectomy, with few cases reported in the literature. In patients with history of any surgical procedure who present with unexplained symptoms of abdominal pain, back pain, hypotension, fever, confusion, or electrolyte abnormalities especially hyponatremia, acute adrenal insufficiency (AI) should be highly suspected. We herein describe a case of BAH following laminectomy. Clinical Case: 63-year-old male with past medical history of hypertriglyceridemia was admitted for post traumatic L1 burst fracture and was treated with T11-L3 fusion and T12-L3 laminectomy. The patient had normal bilateral adrenal glands after the fall on CT thoracic/lumbar spine imaging. The course was complicated by thrombocytopenia initially thought to be induced by therapeutic heparin since heparin antibody was positive. Serotonin-release assay returned negative weeks later ruling out heparin induced thrombocytopenia. Two weeks later, he developed unexplained tachycardia and CT angiogram was done which showed segmental pulmonary embolism and bilateral adrenal nodules measuring at least 3.9 cm on right side and 3.3 cm on left side. He was treated with Eliquis and was discharged home. Two weeks later, he was readmitted with weight loss of 30 lbs, weakness and altered mental status. His vital signs were significant for hypotension and tachycardia. Initial work up showed profound hyponatremia (sodium 121 mEq/L), hyperkalemia (potassium 6.1 mEq/L), hypoglycemia (Glucose 58 mg/dL), hypercalcemia (calcium 11.7 mg/dL) and acute kidney injury (creatinine 2.58 mg/dL). Repeat CT scan of chest/abdomen/pelvis without contrast showed bilateral hyperdense 4 cm adrenal mass/hematoma. Since initial CT of thorax/spine done after the fall showed normal adrenal glands, the new bilateral hyperdense adrenal masses noted post procedure is suggestive of adrenal hemorrhage/hematoma. Undetectable cortisol and high ACTH confirmed AI. Patient was treated with stress dose hydrocortisone followed by slow taper. MRI of pituitary gland showed partial empty Sella however since ACTH was high, empty sella was only an incidental finding and not the cause of AI. He is maintained on hydrocortisone 15 mg in the morning and 5 mg in the evening plus fludrocortisone 0.1 mg daily. His fatigue has improved, he is gaining weight and electrolytes are normal. Conclusions: This case report emphasizes the significance of timely diagnosis and management of BAH, which leads to primary AI. BAH is a rare complication following laminectomy. Clinicians should be aware of this possibility and consider it in the differential diagnosis of postoperative abdominal pain and electrolyte abnormalities, especially hyponatremia. Timely recognition and high index of suspicion should prompt empiric glucocorticoid replacement to decrease mortality. Presentation: 6/1/2024

A CLINICAL CASE OF A PRIMARY PARTIAL EMPTY SELLA PRESENTING WITH HYPOGONADOTROPIC HYPOGONADISM

Primary empty sella (PES) is a rare condition characterized by the herniation of the subarachnoid space into the sellaturcica, with variable filling of cerebrospinal fluid (CSF). We present a clinical case of a 19-year-old male with primary partial empty sella who presented with hypogonadotropic hypogonadism, a condition typically observed in females at an older age. The patient exhibited delayed puberty with characteristic hormonal abnormalities and bilateral atrophic testicles. Magnetic resonance imaging (MRI) revealed a partial empty sella with preserved pituitary function. Hormonal replacement therapy was initiated, leading to improved virilization however, fertility induction was unsuccessful despite intervention. The etiology of PES remains unclear, with proposed mechanisms involving sellar and pituitary factors. Genetic studies have identified candidate genes associated with PES development. Hormonal replacement therapy remains the cornerstone of treatment, aiming to alleviate symptoms and prevent long-term complications. This case underscores the importance of early recognition and management of hypogonadotropic hypogonadism in male patients with PES, with consideration for comprehensive therapeutic approaches, including fertility induction where appropriate.

Is foramen magnum decompression for acquired Chiari I malformation like putting a finger in the dyke? - A simplistic overview of artificial intelligence in assessing critical upstream and downstream etiologies.

Missed diagnosis of evolving or coexisting idiopathic (IIH) and spontaneous intracranial hypotension (SIH) is often the reason for persistent or worsening symptoms after foramen magnum decompression for Chiari malformation (CM) I. We explore the role of artificial intelligence (AI)/convolutional neural networks (CNN) in Chiari I malformation in a combinatorial role for the first time in literature, exploring both upstream and downstream magnetic resonance findings as initial screening profilers in CM-1. We have also put together a review of all existing subtypes of CM and discuss the role of upright (gravity-aided) magnetic resonance imaging (MRI) in evaluating equivocal tonsillar descent on a lying-down MRI. We have formulated a workflow algorithm MaChiP 1.0 (Manjila Chiari Protocol 1.0) using upstream and downstream profilers, that cause de novo or worsening Chiari I malformation, which we plan to implement using AI. The PRISMA guidelines were used for "CM and machine learning and CNN" on PubMed database articles, and four articles specific to the topic were encountered. The radiologic criteria for IIH and SIH were applied from neurosurgical literature, and they were applied between primary and secondary (acquired) Chiari I malformations. An upstream etiology such as IIH or SIH and an isolated downstream etiology in the spine were characterized using the existing body of literature. We propose the utility of using four selected criteria for IIH and SIH each, over MRI T2 images of the brain and spine, predominantly sagittal sequences in upstream etiology in the brain and multiplanar MRI in spinal lesions. Using MaChiP 1.0 (patent/ copyright pending) concepts, we have proposed the upstream and downstream profilers implicated in progressive Chiari I malformation. The upstream profilers included findings of brain sagging, slope of the third ventricular floor, pontomesencephalic angle, mamillopontine distance, lateral ventricular angle, internal cerebral vein-vein of Galen angle, and displacement of iter, clivus length, tonsillar descent, etc., suggestive of SIH. The IIH features noted in upstream pathologies were posterior flattening of globe of the eye, partial empty sella, optic nerve sheath distortion, and optic nerve tortuosity in MRI. The downstream etiologies involved spinal cerebrospinal fluid (CSF) leak from dural tear, meningeal diverticula, CSF-venous fistulae, etc. AI would help offer predictive analysis along the spectrum of upstream and downstream etiologies, ensuring safety and efficacy in treating secondary (acquired) Chiari I malformation, especially with coexisting IIH and SIH. The MaChiP 1.0 algorithm can help document worsening of a previously diagnosed CM-1 and find the exact etiology of a secondary CM-I. However, the role of posterior fossa morphometry and cine-flow MRI data for intracranial CSF flow dynamics, along with advanced spinal CSF studies using dynamic myelo-CT scanning in the formation of secondary CM-I is still being evaluated.

Empty sella in somatotropic pituitary adenomas; a series of 23 cases.

We aimed to investigate empty sella syndrome in somatotrophic pituitary adenoma for possible etiology, complications, and treatment options. Among over 2,000 skull base masses that have been managed in our center since 2013, we searched for growth hormone-producing adenomas. Clinical, surgical, and imaging data were retrospectively collected from hospital records to check for sella that lacked pituitary tissue on routine imaging. In 220 somatotrophic adenomas, 23 patients had an empty sella with surgical and follow-up data. The mean age of the sample was 46 years with the same male-to-female ratio. Five cases had partial empty sella and the rest were complete empty sellas. The most common simultaneous hormonal disturbance was high prolactin levels. Six had adenoma invasion into the clivus or sphenoid sinus and 10 had cavernous sinus intrusion. Peri-operative low-flow and high-flow cerebrospinal fluid (CSF) leaks were encountered in one and two patients, respectively, which were successfully sealed by abdominal fat. The majority of cases required growth hormone replacement therapy while it was controlled without any replacement therapy in nine patients. No pituitary hormonal disturbance occurred after transsphenoidal surgery except for hypothyroidism in one patient. An empty sella filled with fluid can be detected frequently in pituitary adenomas, especially in the setting of acromegaly. The pituitary gland may be pushed to the roof of the sella and might be visible as a narrow rim on imaging or may be detected in unusual places out of the sella. The pathophysiology behind such finding originates from soft and hard tissue changes and CSF pressure alternations during abundant growth hormone production.

#177 : Pregnancy in Partial Empty Sella Secondary to Infarction of Pituitary Microadenoma

Background and Aims: Hyperprolactinemia results from overstimulation of prolactin production which presents as gonadal dysfunction, cranial symptoms and maybe of different etiologies. The hormonal and somatic changes in pregnancy are predictable and affects all body systems, but the presence of pathologic condition in this altered state may require special attention to account for these changes and the life of the child being carried. Method: This is a case of a 34-year-old, G4P2(1122) with oligomenorrhea, difficulty in conception and headache. Her first pregnancy last December 2016 ended with an abortion. She was diagnosed with polycystic ovarian syndrome along with hyperprolactinemia. Cranial magnetic resonance imaging (MRI) revealed pituitary microadenoma and was treated with bromocriptine. A successful pregnancy was achieved 2 months after treatment with uneventful course and was lost to follow-up. A spontaneous abortion last December 2020 prompted work-up. Results: The patient underwent work-up and a repeat laboratory showed a return of hyperprolactinemia but with a partial empty sella on imaging. Resumption of Bromocriptine resulted in remission of prolactin after 2 months. Another successful pregnancy was achieved, and she delivered last 2021 with no complications. She was able to breastfeed postpartum with no subjective complaints. As of writing, the patient is asymptomatic. Conclusion: A thorough history is a critical step in identifying possible causes which may guide us in further investigations and treatment options for Hyperprolactinemia. A resolution of pituitary adenoma is caused by various pathological processes resulting in partial empty sella. Routine hormonal status assessment and regular follow-up are indicated since the prevalence of pituitary dysfunction is significant.

UNILATERAL PAPILLEDEMA DUE TO IDIOPATHIC INTRACRANIAL HYPERTENSION: A CASE REPORT

Introduction: Papilledema is highly predicted and common to encounter in all causes of raised intracranial pressure including idiopathic intracranial hypertension; it is usually bilateral and symmetrical. Unilateral and asymmetrical papilledema is considered highly atypical and a rarity of presentation, posing significant diagnostic challenge to the poorly understood pathological phenomenon of IIH.Case: We report a 40-year-old African female with idiopathic intracranial hypertension who fully fulfills the Modified Danddy Criteria; presenting with unilateral papilledema, with Left eye fundoscopic examination showing extensively hyperemic and swollen optic disc with an associated tortuously engorged retinal vein. Brain imaging via MRI revealed partial empty sella, bilateral prominent fluid signal projection that is more evident in the left optic nerve sheath and a prominent meckel’s cave on the left side measuring (6.1 mm) in the transverse diameter. MRA concluded an attenuated most lateral side of the left transverse sinus. Lumbar puncture was attempted and revealed an opening pressure of (45 cmH2O), and otherwise normal CSF cytology and chemical composition. Significant symptomatic relief was depicted upon lumbar puncture.Discussion: papilledema is universally encountered as a bilateral and symmetrical phenomenon; thus, presentation of IIH with unilateral papilledema has been under extensive research recently in attempts to contemplate the exact pathophysiology. Amongst many other proposed theories, we endorse the variation of the optic canal diameter as a potential mechanism for asymmetry of papilledema in IIH. As larger optic canal diameter is postulated to be associated with higher CSF pressure force transduction with subsequent optic nerve damage.Conclusion: Unilateral and asymmetrical papilledema is considered substantially unique and anecdotal rarities of presentation of IIH; posing a significant diagnostic troublesome and dilemma. Physicians should be aware and highly vigilant of such deviations of usual presentations to avoid consequential diagnostic and management adverse outcomes and unwanted complications.

THU177 Brain Magnetic Resonance Imaging Abnormalities And Effect On Growth Response In Children With Growth Hormone Deficiency

Abstract Disclosure: J. Choe: None. J. Lee: None. J. Kim: None. Purpose: There have been several studies on the association between structural abnormalities of the pituitary gland and its function. However, no studies have yet been conducted on children with idiopathic growth hormone deficiency (GHD) in Korea. We investigated clinical and laboratory findings of Korean children of idiopathic GHD by the presence or absence of pathologies in the pituitary gland. Material/Methods: A total of 479 patients were included from the LG growth study database. Participants had idiopathic GHD with available pituitary magnetic resonance imaging (MRI) and were treated with GH for at least 1 year between Feb, 2001 and Feb, 2020. Clinical characteristics were retrieved from the LG growth study database. Patients were divided into 3 groups according to pituitary MRI findings: (1) pathological findings in the pituitary gland; (2) pathological findings outside the pituitary gland; (3) without pathological findings with MRI. Results: Of the 479 patients, 297 (62.0%) were male and 198 (83.5%) were prepubertal. Their mean age was 7.56±2.95 years (2-16 years) and mean age of GH treatment was 7.56±2.96 years. Pituitary MR images of 354 (73.9%) patients were normal. Of the patients with detected pathologies (26.1%), 77 (61.6%) had pituitary hypoplasia, 15 (12.0%) had Rathke’s cleft cyst, 6 (0.05%) had partial empty sella, 6 (0.05%) had an arachnoid cyst, 3 (0.02%) had ectopic neurohypophysis, and 3 (0.02%) had a pineal cyst. There was no statistically significant difference in the height velocity after one year of GH treatment between groups with or without pituitary pathology (height SDS 0.71±0.34 with pituitary pathology and 0.66±0.35 with pituitary pathology; p=0.09). Conclusions: Among Korean children with GHD, approximately one-quarter of patients had abnormal pituitary MRI findings. There were no significant differences in predicting GH treatment response regardless of pituitary MRI abnormalities. Further long-term studies are needed. Presentation: Thursday, June 15, 2023

FRI329 COVID-19: An Uncommon Cause Of Hypophysitis

Abstract Disclosure: W. Medina-Torres: None. M.A. Ortiz-Rivera: None. L.N. Madera Marin: None. A. Rosado-Burgos: None. L.R. Sepulveda-Garcia: None. L. El Musa Penna: None. M. Ramirez: None. L.A. Gonzalez-Rodriguez: None. M. Alvarado: None. M. Feliciano-Emmanvel: None. COVID-19 is an infectious disease caused by the SARS-CoV-2 virus. One of the virus four structural proteins, the spike(S) protein, contains a region that binds to the extracellular domain of angiotensin-converting enzyme 2 (ACE2). The virus uses the S protein to enter the cell by binding to the ACE2 receptor. Literature has reported that ACE2 receptors are extensively expressed in numerous human tissues and organs, such as in the heart, lung, kidney, testis and brain. Despite it is demonstrated that lungs inflammation is one of the main symptoms during SARS-CoV-2 infection, the moderate expression of ACE2 among other organs may explain the involvement and subsequent impairments of various organs during and after the SARS-CoV-2 infection. Although ACE2 is expressed in several endocrine glands, including the pancreas, thyroid gland, ovaries and testes; pituitary gland expression is limited. Only few cases have been reported in the literature of direct damage to the pituitary gland post covid-19 infection. This is the case of a 31-year-old healthy athlete female without prior systemic illness who was taken to ER after developing hypotension and symptomatic hypoglycemia while flying from Barbados to Miami. Upon questioning, patient referred she was in her usual state of healthy athletic performance until 7 months ago when had mild symptomatic COVID-19. She was 4-months post-partum of a healthy baby and lactating normally, but after the 2-weeks isolation period since COVID-19 infection, she had no return of menstruation and unable to lactate. In addition, patient developed a depressive state, loss of appetite and progressive weight loss. Was found with low Blood pressure and initial laboratories showed pancytopenia and sustained hypoglycemia requiring uninterrupted D10 IV infusion. Laboratory work-up revealed both central adrenal insufficiency (ACTH <1.5 pg/mL and serum cortisol 0.20 mcg/dL), secondary hypothyroidism (TSH: 2.8 mIU/L and free T4: 0.36 ng/dL). Contrast enhanced magnetic resonance imaging (MRI) of the brain was performed with evidence of prominent partial empty sella and slight nodular thickening of the pituitary stalk. Based on these findings a presumptive diagnosis of hypophysitis was made. Rapid clinical improvement was observed on corticosteroid replacement with resolution of hypoglycemia, hypotension, and anorexia, but diabetes insipidus was unmask. Additional laboratories revealed there was definitive panhypopituitarism, with evidence of hypogonadotropic hypogonadism, hypoprolactinemia and growth hormone deficiency. This case illustrates panhypopituitarism secondary to hypophysitis as an uncommon COVID-19 virus sequel. Thus, in patients with persistent non-specific symptoms post COVID-19 infection, it is important to have a high index of suspicious for endocrinopathies such as hypophysitis in order to provide prompt therapy and improve quality of life. Presentation: Friday, June 16, 2023

Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis.

Introduction Pycnodysostosis is a rare osteosclerotic skeletal dysplasia; its clinical features include short stature, characteristic facial features, increased bone fragility, and acro-osteolysis of the distal phalanx. Lack of clear guidelines for treatment and follow-up in rare diseases such as pycnodysostosis with growth hormone (GH) deficiency poses a difficulty for the clinician. This study aims to identify clinical, radiological, and endocrine findings of patients with pycnodysostosis focusing on the first year of recombinant human growth hormone (rhGH) treatment response. The eminence of this study is that it presents clinical experience with rhGH, providing an approach for future similar cases. Methods Three girls and two boys from three different families diagnosed with pycnodysostosis via clinical, radiological, and genetic evaluation followed up in the pediatric endocrinology clinic between 2022 and 2023 were enrolled in this study. Clinical findings, anthropometric measurements (weight, height, body mass index [BMI]), and laboratory, radiological, and genetic examinations were evaluated retrospectively. Participants were evaluated for GH deficiency using L-DOPA and clonidine tests if growth rate was below -2 standard deviation score (SDS) for gender and age after one-year follow-up. Results Complaints on admission were short stature (80%) and recurrent bone fractures (20%). Characteristic facial features and brachydactyly were seen in all the patients. Median height SDS on admission was -3.0 (range: -1.9 to -3.8). Median height SDS on last clinic visit was -3.2 (range: -1.7 to -4.2) at a median age of 8 years (range: 3.5-14 years). BMI was normal in four patients, while one was overweight. Bone mineral densitometry z-score was high, and two patients had bone fractures following minor trauma, while one had recurrent fractures. Two siblings (first and second cases) and the third case were diagnosed with GH deficiency, and anterior pituitary hormones were normal otherwise. One had partial empty sella in hypophyseal magnetic resonance imaging. rhGH (33 mcg/kg/day, subcutaneously) was started. Growth rate of the first, second, and third cases increased from 3.3, 3.1, 3.9 to 5, 4.3, 7.2 cm/year, respectively. Prior to rhGH, two had adenoid hypertrophy which was stable following rhGH. Growth rate follow-up of the fourth case continues, while the fifth case, the only participant who has reached adult height, has normal height according to age and gender normative. Conclusion Although rare, pycnodysostosis should not be overlooked in a patient with characteristic facial features, disproportionate short stature, and recurrent fractures. GH deficiency should be evaluated early if growth rate is declining. rhGH may restore growth rate and the possibility of catch-up in growth in patients with pycnodysostosis and GH deficiency. Hence, after first year of rhGH, growth rate of patients with pycnodysostosis is lower when compared to other etiologies of GH deficiency.

Impact of rater experience and referral question on detecting magnetic resonance imaging features of idiopathic intracranial hypertension.

In idiopathic intracranial hypertension (IIH), magnetic resonance imaging (MRI) features are promising diagnostic markers, but the impact of rater experience and the specific referral question is unknown. From the Vienna Idiopathic Intracranial Hypertension database, patients were included with definitive IIH and routine cranial MRI performed during diagnostic work-up. Frequencies of partial empty sella (ES), optic nerve sheath distension (ONSD), optic nerve tortuosity (ONT), posterior globe flattening (PGF) and transverse sinus stenosis (TSS) were compared in three settings: (i) real-world rating, (ii) junior neuroradiologist without special IIH training and (iii) senior neuroradiologist with experience in IIH imaging (gold standard). Magnetic resonance imaging scans of 84 IIH patients (88% female, mean age 33.5 years) were evaluated. By gold standard, ONSD was the most frequent (64.3%) followed by TSS (60.0%), ONT (46.4%), ES (44.4%) and PGF (23.8%). Compared to the gold standard, IIH features were described significantly less frequently in routine MRI reports (ONSD 28.6%, ONT 13.1%, PGF 4.8%, TSS 42.9%, p < 0.01 respectively) except for ES (42.9%, p = 0.9). A specific referral question regarding IIH increased detection rates in routine reports, but rates remained significantly lower than by gold standard. In contrast, a rating by a neuroradiologist without special training produced significantly higher frequencies of ONSD (81.0%, p < 0.01) and ONT (60.7%, p < 0.01) but not of ES (47.6%), PGF (29.8%) and TSS (68.1%). Idiopathic intracranial hypertension MRI features are underestimated in routine MRI reports and partly overcalled by less experienced neuroradiologists, driven by features less well known or methodologically difficult. Reevaluation of MRI scans by an experienced rater (and to a lesser degree a specific referral question) improves diagnostic accuracy.

Teaching Neuro Images : Meningoencephalocele and CSF leak in chronic idiopathic intracranial hypertension

A 63-year-old woman with epilepsy and chronic headaches was admitted for status epilepticus. A lumbar puncture revealed increased opening pressure of 320 mm H2O and bacterial meningitis. MRI brain demonstrated a partial empty sella, tortuous optic nerve sheaths, flattening of the optic papillae, and numerous prominent arachnoid granulations, consistent with chronic idiopathic intracranial hypertension (IIH), as well as bright CSF signal and brain parenchyma within a left meningoencephalocele (figure, A). A CT cisternogram confirmed communication of the subarachnoid space of the meningoencephalocele with the left sphenoid sinus through a small osseous defect (figure, B). While most CSF leaks are related to trauma, IIH is increasingly recognized as a cause of spontaneous leaks.1,2 While the increased opening pressure may have been due to her acute meningitis, her headache symptoms and MRI findings are suggestive of longstanding intracranial hypertension. Monitoring and medical treatment of IIH must accompany surgical repair to avoid recurrence.2

Pituitary Dysfunction in Idiopathic Intracranial Hypertension: An Analysis of 80 Patients.

Empty sella is a commonly described imaging entity in patients with idiopathic intracranial hypertension (IIH). Though menstrual and hormonal disturbances have been associated with IIH, available literature lacks systematic analysis of pituitary hormonal disturbances in IIH. More so, the contribution of empty sella in causing pituitary hormonal abnormalities in patients of IIH has not been described. We carried out this study to systematically assess the pituitary hormonal abnormalities in patients with IIH and its relation to empty sella. Eighty treatment naïve patients of IIH were recruited as per a predefined criterion. Magnetic resonance imaging (MRI) brain with detailed sella imaging and pituitary hormonal profile were done in all patients. Partial empty sella was seen in 55 patients (68.8%). Hormonal abnormalities were detected in 30 patients (37.5%), reduced cortisol levels in 20%, raised prolactin levels in 13.8%, low thyroid-stimulating hormone (TSH) levels in 3.8%, hypogonadism in 1.25%, and elevated levels of gonadotropins were found in 6.25% of participants. Hormonal disturbances were independent and were not associated with the presence of empty sella (p = 0.493). Hormonal abnormalities were observed in 37.5% patients with IIH. These abnormalities did not correlate with the presence or absence of empty sella. Pituitary dysfunction appears to be subclinical in IIH and responds to intracranial pressure reduction, not requiring specific hormonal therapies.

Clinical features and enzyme replacement therapy in 10 children with Fabry disease.

To summarize the clinical features, diagnosis and enzyme replacement therapy(ERT) of Fabry disease (FD) in children. The clinical data, laboratory tests, genetic variations and treatment of 10 FD children diagnosed in Shandong Provincial Hospital from September 2020 to June 2022 were retrospectively analyzed. Among the 10 cases from 6 families, 7 patients were boys of 4 to 13 years of age, and 3 were girls of 12 to 15 years of age. There were 7 symptomatic patients, including 6 boys and 1 girl. All 7 patients presented with acral neuralgia. Five patients had little or no sweating. Five patients presented with cutaneous angiokeratoma. Two patients had abdominal pain. One patient developed joint symptoms. Four patients had corneal opacity. One patient had hearing loss; one patient had short stature. One patient had mild proteinuria and 1 patient had dysplasia of the right kidney with decreased eGFR (55.28 ml/min.1.73 m2). The left ventricular mass index was slightly elevated in 1 patient. Three patients had mild obstructive ventilatory dysfunction; a small amount of effusion in the intestinal space of the lower abdomen or mild fatty liver was found in 2 patients. Partial empty sella turcica in 1 patient. A total of 6 GLA gene variants were detected in 10 children, among which C.1059_1061delGAT (p.met353del) was a newly discovered mutation. Five children received ERT, of which 4 were treated with agalsidase beta and 1 was treated with agalsidase alpha. Only 1 patient had anaphylaxis. Lyso-GL-3 levels decreased significantly in the first 3 months of ERT initiation and remained relatively stable thereafter in 3 patients. The Lyso-GL-3 level was decreased, but renal impairment continued to progress in 1 patient treated with agalsidase alpha. The clinical manifestations of FD in childhood are diverse, and it is necessary to make a definite diagnosis by combining family history, enzyme activity, biomarkers, gene testing and other indicators. Pedigree screening and high-risk population screening are helpful for early identification, early diagnosis and early treatment. No serious adverse reactions were found during the short-term treatment with agalsidase alpha and beta.

Intracranial Pathologies and Endocrine Results: Single Pediatric Endocrinology Center Experience

ABSTRACT Intracranial pathologies can affect pituitary hormone levels whether they are primarily related to the pituitary gland or not. In pituitary hormone deficiencies, the size and location of the pituitary gland may be normal, as well as one or more hormone effects may be observed after hypoplasia, partial empty sella, ectopic neurohypophysis, Rathke's cleft cyst, adenomas and other pituitary masses or surgeries. In early puberty, the pituitary dimensions are usually increased, rarely hypoplasia and rathke cleft cyst are seen as MRI findings. Non-pituitary pathologies cause especially early puberty, single or multiple pituitary hormone deficiency. In this study, we aimed to categorize the patients with pituitary/cranial lesions and hormonal pathology and to determine their frequency and distribution in the single pediatric endocrinology clinic for ten years. The data of 485 patients, 186 (38.3%) male, were retrospectively analyzed. Their mean age was 9.3 ± 3.2 years. The incidental pituitary lesion was found in 28 (5.77%) of all cases. There was no hormonal influence in 20 (71.4%) of them. In most of the 454 cases with hormonal disorders, MRI (Magnetic Resonance Imaging) findings were normal in most of the 454 cases with hormonal disorders (71.8%). The most common hormonal pathologies were precocious puberty and isolated Growth Hormone deficiency, 57.9% and 26.4% respectively. Non-pituitary lesions (n=23, 5%) were most frequently accompanied by early puberty (39.1%). The hypothalamus-pituitary axis may be affected by primary lesions in its own region, or it may be seen as a result of other cranial pathologies. Cranial evaluation is also important in addition to pituitary imaging in pituitary hormone disorders.

Hipopitüitarizm ile Birlikte Olan Papiller Tiroid Kanserinin Takibinde Zorluk: Olgu Sunumu ve Literatürün Gözden Geçirilmesi

Aim: We present an interesting case of papillary thyroid cancer co-existent with hypopituitarism.&#x0D; Case: Fortysix-year-old female was applied with a complaint of painful palpabl lump in the right side of the neck, difficulty swallowing, cough and dyspnea. The patient was diagnosed with type 2 diabetes mellitus 8 years ago, underwent craniotomy for nonfunctioning pituitary adenoma 15 years ago, and received gamma knife 10 years ago. She had been taking insulin glargine and lispro, prednisolone, and levothyroxine (LT4). Physical examination was unremarkable. Pituitary MRI revealed partial empty sella. A solid nodule of 33x27x30 mm with irregular borders and containing microcalcifications in the right thyroid lobe was detected on sonography. Fine needle aspiration cytology revealed “strongly suspicious features for malignancy”. Papillary thyroid carcinoma (PTC) was detected after right lobectomy and then complementary thyroidectomy. Follow-up sonography performed 14 months later than radioactive iodine (RAI) showed an avascular solid area of 30x14x15 mm in the right. We decided to monitor free thyroxine (fT4), thyroglobulin and anti-thyroglobulin levels. LT4 dose was adjusted to keep fT4 level closer to the upper limit of normal. No complications or recurrences were detected. &#x0D; Conclusion: Studies on the follow-up of PTC cases with hypopituitarism are limited. We performed RAI after total thyroidectomy, and treated the patient with LT4 by adjusting fT4 level.

Partial Empty Sella Syndrome Presenting with Panhypopituitarism and Masked Central Diabetes Insipidus

Empty sella syndrome (ESS) is an uncommon cause of hypopituitarism. It is usually detected incidentally or with neurological symptoms whereas it is rare to present with symptomatic endocrine dysfunction. A 48-year old previously healthy man presented with generalized body weakness, lethargy, fatigue and pos­tural dizziness of one month with no headache or visual disturbance. He also had features suggestive of hypo­gonadism and hypothyroidism. Panhypopitutarism secondary to partial ESS was diagnosed based on pituitary hormone testing and MRI brain. After starting glucocorticoid (GC) replacement patient developed polyuria and polydipsia and was diagnosed to have partial central diabetes insipidus (DI). He was successfully treated with hydrocortisone, thyroxin, intranasal vasopressin and testosterone. ESS causes significant pituitary dysfunction in considerable proportion of patients.