Hypothalamic-pituitary Region Research Articles

Adding T2-Weighted Images to FAST1 Protocol to Evaluate the Anatomy of the Hypothalamic-Pituitary Region

Introduction: Ectopic posterior pituitary (EPP) is a malformation of the hypothalamic-pituitary region presented as a spectrum from isolated growth hormone deficiency (GHD) to multiple pituitary hormone deficiencies (MPHDs). Our goal was to establish whether the FAST1.2 protocol, which combines the FAST1 protocol with 3D-T2 DRIVE images, could identify the pituitary stalk (PS) and the regional anatomy more accurately. Methods: A retrospective study of 36 individuals with EPP and hypopituitarism and a control group of 78 individuals with eutopic posterior pituitary was conducted. All individuals were submitted to FAST1.2. The position and size of the pituitary lobes were described, and the presence/absence of the PS was confirmed. Results: FAST1 identified the PS in 19% of individuals with EPP, while FAST1.2 identified the PS in 67% (p < 0.001). In the FAST1.2 protocol, the PS was visible in all control individuals. All EPP patients with isolated GHD had visible PS in FAST1.2, while only 58.6% of MPHD cases had visible PS. The size of the anterior lobe and the anteroposterior length of the posterior pituitary were smaller in the EPP group versus controls (p < 0.001). We noticed a reduced anterior pituitary lobe in both diameters in MPHD patients (p < 0.05). Six patients acquired new pituitary hormone deficiencies not recognized at the time of MRI; in this group, only 1 patient had a PS not visible in FAST1.2. Discussion/Conclusion: The FAST1.2 protocol could prevent the misdiagnosis of idiopathic GHD in patients with short stature and could also be important in the progression to MPHD. The PS could be considered a predictor of hypopituitarism, but its use as an isolated indicator for the progression to MPHD is not recommended. Our results reinforce the use of the size of the anterior lobe as a predictor of hypopituitarism and a possible predictor of the degree of pituitary insufficiency. The FAST1.2 protocol could be used as an alternative to gadolinium administration, as a cheaper and faster method, while eliminating the potential risks associated with the administration of contrast media.

Identification of clinical factors related to antibody-mediated immune response to the subfornical organ.

We recently reported cases of adipsic hypernatremia caused by autoantibodies against the subfornical organ in patients with hypothalamic-pituitary lesions. This study aimed to clarify the clinical features of newly identified patients with adipsic hypernatremia whose sera displayed immunoreactivity to the mouse subfornical organ. Observational cohort study of patients diagnosed with adipsic hypernatremia in Japan, United States, and Europe. The study included 22 patients with adipsic hypernatremia but without overt structural changes in the hypothalamic-pituitary region and congenital disease. Antibody response to the mouse subfornical organ was determined using immunohistochemistry. The clinical characteristics were compared between the patients with positive and negative antibody responses. Antibody response to the mouse subfornical organ was detected in the sera of 16 patients (72.7%, female/male ratio, 1:1, 12 pediatric and 4 adult patients). The prolactin levels at the time of diagnosis were significantly higher in patients with positive subfornical organ (SFO) immunoreactivity than in those with negative SFO immunoreactivity (58.9 ± 33.5 vs. 22.9 ± 13.9 ng/ml, p < .05). Hypothalamic disorders were found in 37.5% of the patients with positive SFO immunoreactivity. Moreover, six patients were diagnosed with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation/neural tumor syndrome after the diagnosis of adipsic hypernatremia. Plasma renin activity levels were significantly higher in patients with serum immunoreactivity to the Nax channel. The patients with serum immunoreactivity to the SFO had higher prolactin levels and hypothalamic disorders compared to those without the immunoreactivity. The clinical characteristics of patients with serum immunoreactivity to the subfornical organ included higher prolactin levels and hypothalamic disorders, which were frequently associated with central hypothyroidism and the presence of retroperitoneal tumors.

Clinical features and difficulty in diagnosis of Langerhans cell histiocytosis in the hypothalamic-pituitary region.

Langerhans cell histiocytosis (LCH) is a multi-organ disorder that rarely involves the hypothalamic-pituitary region (HPR). HPR-LCH presents with severe progressive pituitary dysfunction and its prognosis is poor. The definitive diagnosis of LCH is considerably difficult and complicated owing to the occurrence of several diseases with similar manifestations in the HPR and its location in the deepest portion of the anterior skull base, in close proximity to important normal structures, severely limiting the size of the biopsy specimen. Chemotherapy is the established treatment modality for LCH; hence, timely and accurate diagnosis of LCH is essential for early therapeutic intervention. We retrospectively reviewed clinical features and biopsy procedures in four patients with HPR-LCH (all female, 28-44 years old) from 2009 to 2020. Maximum diameter of supra-sellar lesions was 23-35 mm and 2 cases had skip lesions. All patients demonstrated central diabetes insipidus, hyper-prolactinemia, and severe anterior pituitary dysfunction. Two of the patients had progressive disease. Furthermore, four patients presented body weight gain, two visual disturbance, and two impaired consciousness. The duration from onset to diagnosis of LCH was 3 to 10 (average 7.25) years. In total, eight operations were performed until final diagnosis. The percentage of correct diagnosis by biopsy was 50% (4/8). Clinical features of HPR-LCH are very similar to those of other HPR diseases, and their symptoms are progressive and irreversible. Clinicians should consider repeated biopsy with a more aggressive approach if the lesion is refractory to steroid therapy, in order to ensure accurate diagnosis and appropriate treatment.

GH Deficiency and Replacement Therapy in Hypopituitarism: Insight Into the Relationships With Other Hypothalamic-Pituitary Axes.

GH deficiency (GHD) in adult patients is a complex condition, mainly due to organic lesion of hypothalamic-pituitary region and often associated with multiple pituitary hormone deficiencies (MPHD). The relationships between the GH/IGF-I system and other hypothalamic-pituitary axes are complicated and not yet fully clarified. Many reports have shown a bidirectional interplay both at a central and at a peripheral level. Signs and symptoms of other pituitary deficiencies often overlap and confuse with those due to GH deficiency. Furthermore, a condition of untreated GHD may mask concomitant pituitary deficiencies, mainly central hypothyroidism and hypoadrenalism. In this setting, the diagnosis could be delayed and possible only after recombinant human Growth Hormone (rhGH) replacement. Since inappropriate replacement of other pituitary hormones may exacerbate many manifestations of GHD, a correct diagnosis is crucial. This paper will focus on the main studies aimed to clarify the effects of GHD and rhGH replacement on other pituitary axes. Elucidating the possible contexts in which GHD may develop and examining the proposed mechanisms at the basis of interactions between the GH/IGF-I system and other axes, we will focus on the importance of a correct diagnosis to avoid possible pitfalls.

Noncontrast MRI Protocol for Selected Pediatric Pituitary Endocrinopathies: A Procedure with High Diagnostic Yield and Potential to Reduce Anesthesia and Gadolinium-Based Contrast Exposure.

Although many pediatric neuroradiology practices empirically use noncontrast brain and pituitary MR imaging for evaluation of growth hormone deficiency, central precocious puberty, and short stature, there are currently insufficient published data to support this practice in an evidence-based fashion. Therefore, the use of contrast-enhanced MR imaging for all pediatric pituitary endocrinopathies remains widespread. We evaluated whether noncontrast MR imaging has adequate diagnostic yield for the evaluation of pediatric growth hormone deficiency, central precocious puberty, and short stature. Pituitary MR imaging studies obtained for growth hormone deficiency, central precocious puberty, or short stature in patients 0-18 years of age from 2010 to 2019 were analyzed. Separate blinded review of noncontrast images in cases with abnormalities on the original radiology report was performed by 2 subspecialty-trained pediatric neuroradiologists, with discrepancies resolved by consensus. Of the 134/442 MR imaging studies obtained for growth hormone deficiency, central precocious puberty, or short stature with hypothalamic-pituitary region abnormalities, there was 70% concordance with the original reports on blinded review of noncontrast images. Twenty-two of 40 discrepancies were deemed unrelated to the indication, and 9 cases originally interpreted as possible microadenoma were read as having normal findings on blinded review. Only 9 of 40 discrepancies required contrast for further characterization. In our study, most relevant radiologic findings in patients with growth hormone deficiency, central precocious puberty, and short stature were detectable without contrast, providing evidence that contrast can be avoided in routine MR imaging evaluation of these indications. We propose a "rapid noncontrast pituitary" MR imaging protocol for pediatric patients presenting with growth hormone deficiency, central precocious puberty, or short stature, which may increase efficiency and decrease contrast and anesthesia exposure.

Особливості діагностики та лікування вторинного гіпотиреозу

Огляд літератури присвячений вторинному гіпотиреозу — рідкісній патології, при діагностиці та лікуванні якої виникає низка питань і труднощів. Основними причинами вторинного гіпотиреозу у дорослих є пухлини гіпоталамо-гіпофізарної ділянки, а також стан після оперативного і променевого впливу на цю ділянку. Гормонально активні та неактивні макроаденоми гіпофіза є причиною розвитку набутого вторинного гіпотиреозу в більше ніж 50 % випадків. При променевій терапії пухлин головного мозку розвиток вторинного гіпотиреозу можливий через декілька років після проведеного лікування. Як і при первинному гіпотиреозі, клінічні прояви вторинного гіпотиреозу неспецифічні. Діагностика та лікування цього захворювання найчастіше ускладнюються його поєднанням з недостатністю інших тропних гормонів. Основу діагностики вторинного гіпотиреозу становлять анамнестичні дані і лабораторні показники — одночасне визначення концентрації тиреотропного гормона і вільного тироксину. Вміст вільного тироксину також використовують як основний маркер адекватності дози левотироксину при лікуванні вторинного гіпотиреозу. Результати нещодавно опублікованих праць дозволяють оптимізувати замісну терапію при вторинному гіпотиреозі, однак дотепер залишається невивченим питання використання додаткових біохімічних маркерів для оцінки адекватності замісної терапії.

Распространенность различных форм несахарного диабета и его осложнений в Республике Узбекистан

Актуальность. Центральный несахарный диабет (НД) — заболевание, характеризующееся неспособностью почек реабсорбировать воду и концентрировать мочу, имеющее в своей основе дефект синтеза или секреции вазопрессина и проявляющееся выраженной жаждой и экскрецией большого количества разведенной мочи. Цель исследования — оценка распространенности различных форм несахарного диабета и его осложнений, качества диагностики и лечения по данным областных эндокринологических диспансеров Республики Узбекистан (РУз). Материалы и методы. В исследовании использованы данные регистра больных НД, состоящих на учете в областных эндокринологических диспансерах всех регионов Республики Узбекистан и Республики Каракалпакстан (РКК) в 2018 году, а также собственные наблюдения. Установлено, что в РУз и РКК на конец 2018 г. на учете состояли 1237 детей и подростков, больных НД. Проведен анализ 397 случаев заболевания НД. Средний возраст больных составил 5,6 ± 2,0 года. Результаты. Преимущественно наблюдалась идиопатическая форма НД — 214 больных (55,8 %), на втором месте по встречаемости находилась центральная форма НД — 129 больных (40,9 %), в то время как реже наблюдалась почечная форма — 26 (3,3 %) и наследственная форма заболевания — 3 (0,2 %). Большинство больных (48,9 %) не связывали начало заболевания с каким-либо фактором. Однако у 20,4 % больных несахарный диабет развился после травмы черепа. У 4,8 % больных причиной болезни явились опухоли гипоталамо-гипофизарной области, а у 14,5 % больных — нейровирусная инфекция. Наследственная предрасположенность была у 0,4 % больных. Выводы. В регионах Республики Узбекистан и РКК наиболее часто наблюдались две формы несахарного диабета: идиопатическая — 214 (55,8 %) и центральная — 129 случаев (40,9 %). Наибольшее число больных было в возрасте от 0 до 9 лет — 85 пациентов (22,9 %). Средний возраст больных детей и подростков составил 7,6 года. Заболевание чаще встречалось у лиц мужского пола (51,1 %).

Normal tissue tolerance amongst paediatric brain tumour patients- current evidence in proton radiotherapy.

Proton radiotherapy (PT) is used increasingly for paediatric brain cancer patients. However, as demonstrated here, the knowledge on normal tissue dose constraints, to minimize side-effects, for this cohort is limited. A search strategy was systematically conducted on MEDLINE® database. 65 papers were evaluated ranging from 2013 to 2021. Large variations in normal tissue tolerance and toxicity reporting across PT studies makes estimation of normal tissue dose constraints difficult, with the potential for significant late effects to go unmeasured. Mean dose delivered to the pituitary gland varies from 20 to 30 Gy across literature. Similarly, the hypothalamic dose delivery ranges from 20 to 54.6 Gy for paediatric patients. There is a significant lack of radiobiological data for paediatric brain cancer patients undergoing proton therapy, often using data from x-ray radiotherapy and adult populations. The way forward is through standardisation of reporting in order to validate relevant dose constraints.

COVID-19 and the Endocrine System: A Comprehensive Review on the Theme.

Background and aim. The review aimed to summarize advances in the topic of endocrine diseases and coronavirus disease 2019 (COVID-19). Methods. Scientific and institutional websites and databases were searched and data were collected and organized, when plausible, to angle the discussion toward the following clinical issues. (1) Are patients with COVID-19 at higher risk of developing acute or late-onset endocrine diseases or dysfunction? (2) May the underlying endocrine diseases or dysfunctions be considered risk factors for poor prognosis once the infection has occurred? (3) Are there defined strategies to manage endocrine diseases despite pandemic-related constraints? Herein, the authors considered only relevant and more frequently observed endocrine diseases and disorders related to the hypothalamic-pituitary region, thyroid and parathyroid glands, calcium-phosphorus homeostasis and osteoporosis, adrenal glands, and gonads. Main. Data highlight the basis of some pathophysiological mechanisms and anatomical alterations of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)-induced endocrine dysfunctions. Some conditions, such as adrenal insufficiency and cortisol excess, may be risk factors of worse clinical progression once the infection has occurred. These at-risk populations may require adequate education to avoid the SARS-CoV-2 infection and adequately manage medical therapy during the pandemic, even in emergencies. Endocrine disease management underwent a palpable restraint, especially procedures requiring obligate access to healthcare facilities for diagnostic and therapeutic purposes. Strategies of clinical triage to prioritize medical consultations, laboratory, instrumental evaluations, and digital telehealth solutions should be implemented to better deal with this probably long-term situation.

Clinical presentation and management of hypophysitis: An observational study of case series

Background: Hypophysitis is described as a rare chronic inflammatory affection of the pituitary gland. However, to date, its pathogenesis has not been completely cleared up. Clinical features are polymorphic, including symptoms related to inflammatory compression and/or hypopituitarism. Laboratory tests determine hormone deficiencies orientating replacement therapy’s protocol. MRI of the hypothalamic-pituitary region is crucial in exhibiting major radiological signs such as pituitary homogeneous enlargement and gland stalk’s thickening. The etiological diagnosis is still challenging without affecting the management strategy. Corticosteroids have widely been used but a close follow-up without any treatment has also been approved.Case Description: In this report, seven patients with hypophysitis have been collected over a period of 6 years. The average age of our patients was 32.1 years ± 11.8 with a female predominance (71.4%). Panhypopituitarism was objective in 42.9% of cases, a combined deficiency of the hypothalamic-pituitary thyroid, adrenal and gonadal axes in 28.6% of cases. A central diabetes insipidus was noted in 42.9% of the patients. Idiopathic hypophysitis was the most common etiology. The use of long course corticosteroids was required in 28.6% when compressive signs were reported.Conclusion: Hypophysitis remains a rare disease with nonspecific clinical and radiological patterns. Autoimmune origin seems to be the most frequent etiology. No guidelines have been established for hypophysitis management and the evolution is still unpredictable.

Etiological Spectrum with Diagnosis and Prognosis of Central Diabetes Insipidus needs Long Term Followup: A Single Centre Experience

Introduction: Central Diabetes insipidus (CDI) is a rare disorder caused vasopressin deficiency characterized by the excretion of copious volumes of unconcentrated urine. Objective: To assess the etiological,clinical, biochemical and radiological spectrum of Central DI in our institute and long term follow up of these cases. Material and Methods:32 patients with Central DI admitted in Department of Endocrinology,Guwahati Medical College, Assam in the last 2.5 years were included.Detailed clinical assessment, biochemical evaluation and MRI (Magnetic Resonance imaging) brain were done in all the patients. Central DI without any identifiable cause was considered Idiopathic and those with structural lesion in hypothalamic pituitary region were considered organic. Result: Idiopathic CDI was present in 12(37.5%) patients and 20(62.5%) patients had organic CDI with acute onset of presentation.12(60%) patients with organic CDI present with neurological symptoms but 8(40%) patients had no neurological symptoms even with organic cause. Pituitary dysfunction was common in organic CDI as compared to idiopathic CDI. Paediatric patients commonly present with organic cause for CDI with low cortisol most common hormonal deficit. One patient of idiopathic CDI with normal stalk thickness at baseline presented with clinical and radiological features of (Langerhans cell histiocytosis) on follow up. Conclusion: Organic CDI more likely to have acute onset of presentation than idiopathic CDI and even in absence of neurological features. Paediatric patients commonly have organic cause for CDI. We propose the paramount importance of long-term clinical follow-up and reassessment of endocrine function in patients with CDI for definitive diagnosis of autoimmune and inflammatory causes of idiopathic CDI and timely treatment of pituitary ypofunction.

Thyroid Dysfunction and Thyroid Cancer in Childhood Cancer Survivors: Prevalence, Surveillance and Management.

Childhood cancer survivors (CCS) are at increased risk of developing thyroid disorders during follow-up. Radiation therapy to a field that includes the thyroid gland and 131I-meta-iodobenzylguanidine (131I-MIBG) treatment are the main risk factors for thyroid sequelae, which include decreased thyroid function, hyperthyroidism, thyroid nodules, and differentiated thyroid cancer, specifically papillary thyroid carcinoma. In addition, treatment with anti-neoplastic drugs or immunotherapy may result in thyroid dysfunction. Central hypothyroidism may be seen in CCS after cranial radiotherapy, after immunotherapy, or secondary to a brain tumor that involves the hypothalamic-pituitary region and will be discussed elsewhere in this series. In this chapter, the prevalence, risk factors, surveillance, and management of primary hypothyroidism, hyperthyroidism, thyroid nodules, and differentiated thyroid carcinoma in CCS are discussed.

Basal level of luteinizing hormone as a key marker of the idiopathic central hypogonadism in women

Background: Central hypogonadism (CH) is a syndrome characterized by low levels of peripheral sex steroid hormones due to the lack of central (hypothalamic-pituitary) regulation of reproductive system. In females, CH clinically manifests by amenorrhea, anovulation, and infertility. The classical diagnostic criteria of CH in the absence of organic disease of hypothalamic-pituitary region (“idiopathic” CH) include low gonadotropin levels; however, their levels within the reference ranges do not exclude CH. Moreover, reference ranges for these parameters are different between laboratories. Thus, currently no clear laboratory diagnostic criteria for female CH are available.Aim: To determine the diagnostic value of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) basal levels for the confirmation of CH diagnosis in women and to identify cutoffs of basal gonadotropins levels, which can be considered as diagnostic criteria for female CH.Materials and methods: This cross-sectional study included 87 women: 49 with confirmed CH, aged 18 to 36 years (median, 24 [Q21; Q29]), and 38 healthy fertile women with regular menstrual cycles aged 21 to 45 years (median, 23 [Q23; Q28]). In all subjects, LH, FSH, estradiol, testosterone, prolactin, and free thyroxin levels were measured by chemiluminiscent immunoassay.Results: LH, FSH, estradiol, and prolactin levels in the CH patients were significantly lower than those in healthy subjects. The ROC analysis showed that LH level ≤ 1.95 ME/l indicated the central genesis of hypogonadism with sensitivity of 81.25% and specificity of 91.89%. Basal FSH level ≤ 5.075 ME/l had a 70.00% sensitivity and 77.14% specificity for CH diagnosis.Conclusion: Basal LH level ≤ 1.95 ME/l measured by chemiluminiscent immunoassay can be considered as an idiopathic CH diagnostic criterion in female with amenorrhea due to the hypoestrogenemia with sensitivity of &gt; 80% and specificity &gt; 90%.

A case of fixation amnesia in Langerhans cell histiocytosis involving the central nervous system

Langerhans cell histiocytosis (LCH) is a rare disease with hitherto unknown etiology and pathogenesis. It is extremely rare for clinicians to encounter histiocytic lesions of the central nervous system (CNS); the proportion of cases of which is only 1–4% of all polysystemic and multifocal bone lesions. The paper describes a clinical case of fixation amnesia in a female patient with focal brain lesions in LCH. It depicts the most characteristic clinical features and presents an algorithm for the diagnosis of histiocytic brain lesion. The results of the experimental psychological examination of the patient are considered in detail and the clinical presentations of fixation amnesia are described. There are neuroimaging data showing the lesions in the hypothalamic-pituitary region and temporal bone, which involve the auditory structures. The clinical findings have led to the conclusion that both the clinical and neuroimaging patterns of histiocytic lesions in the CNS are non-specific, which complicates the diagnostic search in LCH. For correct diagnosis and timely treatment, it is necessary to perform a biopsy of the pathological focus, followed by histological and immunohistochemical examination of the material.

Protocolo diagnóstico de la hiperprolactinemia

Prolactin hormone is mainly secreted by lactotroph cells of adenohypophyses. As consequence, the causes of hyperprolactinemia are almost exclusively physiological and pathological, triggering lactotroph cells prolactin hypersecretion. Clinically hyperprolactinemia is easily recognizable. In women symptoms are menstrual cycle disorders and galactorrhea; in men decreased libido and erectile dysfunction is observed. Diagnosis is performed by the measurement of serum prolactin levels above normal range (> 20 ng/ml in men and in post-menopausal women, and >25 ng/ml in pre-menopausal women). Once diagnosis is confirmed, cause has to be identified. Because in the most cases the etiology is prolactinoma or other disorder of the pituitary fossa (excluded physiologic or pharmacologic causes), neuro-imaging test of the hypothalamic-pituitary region has to be performed.

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

Isolated Langerhans cell histiocytosis in hypothalamic-pituitary region

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Hipofiz Yetmezliğinin Nadir Bir Nedeni: Hipofiz Sapı Kesinti Sendromu ve Manyetik Rezonans Görüntüleme Bulguları

Pituitary stalk interruption syndrome is a rare disease characterized by a deficiency of adenohypophyseal hormones. Clinical presentation usually occurs in childhood or in the second decade of life. The severity of hormonal deficiency is variable. It may be isolated or be accompanied by extra–pituitary anomalies. Magnetic resonance imaging findings are considered as an absent pituitary stalk, absent or smaller adenohypophysis, absent or ectopic neurohypophysis. Contrast-enhanced imaging is essential in evaluating the presence and morphology of the pituitary stalk. In the presence of clinical findings, evaluation of the hypothalamic–pituitary region using magnetic resonance imaging is necessary for diagnosis. Early diagnosed cases can maintain their normal lives with hormone replacement. In this article, we aimed to present pituitary stalk interruption syndrome and its magnetic resonance imaging findings with a case presentation

Clinical, Endocrine, Metabolic Profile, and Bone Health in Sheehan's Syndrome.

Background:Sheehan's syndrome (SS) occurs due to ischemic pituitary necrosis resulting from severe postpartum hemorrhage (PPH). SS is characterized by varying degrees of pituitary insufficiency involving mostly the anterior lobe. Comprehensive data on SS apart from endocrine dysfunction is scarcely available.Materials and Methods:Thirty-eight subjects previously diagnosed with SS were enrolled in this observational study. Their clinical, biochemical, hormonal, radiological data at presentation were recorded from past records and bone density was measured in all.Results:Mean (±SD) age was 39 (±8.7) years and diagnostic delay was 9.3 (±5.5) years. All had history of PPH and lactation failure. About 47% were referred from emergency, and rest 53% were diagnosed from outpatient's department. Mean free T4, TSH, prolactin, morning cortisol, FSH, LH, and IGF-1 were mostly low. Panhypopituitarism was present in 97%. Hyponatremia was most common electrolyte imbalance found in about 53%. More than 40% had elevated transaminases. Dyslipidemia especially low HDL was found in 31 (81.5%) subjects. MRI of hypothalamus–pituitary region showed empty sella in 53% and partial empty sella in 47%. About 13% subjects had diabetes mellitus. Low bone mass (BMD Z-Score ≤-1) was seen in 80% and it was more severe (BMD Z-Score ≤-2) in 44% subjects, affecting predominantly lumbar spine. Bone loss at femoral neck was less prominent.Conclusion:Apart from variable spectrum of clinical presentation, subjects with SS have significant abnormalities in serum electrolytes, metabolic parameters. Low bone mass is also a frequent accompaniment.

Isolated Langerhans cell histiocytosis in the hypothalamic-pituitary region: a case report

BackgroundLangerhans cell histiocytosis (LCH) is a rare disease that mainly affects children, but this disease is significantly rarer in patients who are older than 15 years. In this disease, any organ can be involved. The skeleton, skin and lung are commonly affected, and isolated hypothalamic-pituitary (HP) involvement is relatively rare. Here we report a 17-year-old adolescent with isolated HP-LCH of enlarged pituitary stalk presented with central diabetes insipidus (CDI).Case presentationA 17-year-old male adolescent with polydipsia and polyuria accompanied with elevated serum sodium level and low urine osmolality for 3 weeks was referred to our hospital. After admission, hormonal evaluation showed that his growth hormone (GH) was slightly elevated, and serum osmolality and glucose were normal. The fluid deprivation-vasopressin test demonstrated CDI. Imaging examination showed an obvious thickening of the pituitary stalk. Lymphocytic hypophysitis, sarcoidosis and granulation tissue lesions were suspected. After oral 1-deamino-8-Darginine vasopressin (DDAVP) and prednisone were administered for 2 months, symptoms were relieved, and he discontinued taking the drugs by himself. On reexamination, imaging revealed changes in the size and shape of the pituitary stalk, with thickened nodules. Then, a diagnostic biopsy of the pituitary stalk lesion was performed. Immunohistochemistry confirmed the definitive diagnosis of LCH. The clinical symptoms subsided with oral hormone replacements.ConclusionCDI is a rare symptom in children and adolescents. Most of the causes are idiopathic, while others are caused by central nervous system (CNS) disorders. Meanwhile, lymphocytic hypophysitis, germinoma, LCH and other CNS disorders can all present as thickening of the pituitary stalk, diffuse enlargement of the pituitary gland, and weakening of high signal intensity in the neurohypophysis on magnetic resonance imaging (MRI). The differential diagnosis among these diseases depends on immunohistochemistry evidence.