Pituitary Disease Research Articles

Severe Symptomatic SIADH as a Sign of Unknow Hypopituitarism: A Case Report

Abstract Background: SIADH due to secondary adrenal insufficiency is a rare condition that can be life-threatening. Treatment with glucocorticoids is highly effective, but, as symptomatology of hypopituitarism can be mild and unspecific, a high level of clinical suspicion is necessary. Clinical Case: A 64-year-old postmenopausal woman, with a previously diagnosed and treated hypothyroidism and depressive syndrome, presented at the emergency room with nausea, vomits, asthenia and recurrent syncopes over the past three weeks and weight loss in the last months. One week before, she had been admitted at other hospital due to the same complaints and a serum Na+ of 112mmol/L (N 135-145 mmol/L) was detected. One year earlier, she had reported the same symptomology and hyponatremia had also been found, but no etiologic study was performed. At admission, she was conscient, hydrated, pale, hemodynamically stable, with unremarkable cardiopulmonary auscultation. A severe hyponatremia was found (Na+ 111mmol/L), with low serum osmolarity (241mOsm/Kg, N 280-301mOsm/Kg), low urine osmolality (125mOsm/kg N 300-900 mOsm/Kg) and low urinary sodium (33mmol/24h, N 40-220mmol/24h). Treatment with saline fluids was initiated and the patient was admitted for etiological investigation, which showed a low morning serum cortisol (3.7 µg/dl)) with inappropriately low-normal ACTH level (12.2 pg/mL), low FSH (15.07 mUI/mL, N 23.0-116.3 mUI/mL) and LH (4.28 mUI/mL, N 15.9-54 mUI/mL), estradiol of 78.81 pmol/L (N <118.2 pmol/L), undetectable IGF-1 (<25 ng/mL, N 36-244 ng/mL) and PRL of 21.98 ng/mL (N 1.8-20.3 ng/mL). Under 50µg of levothyroxine, TSH was 2.5 µUI/mL (N 0.358-3.74 µUI/ml), and FT4 was 1.1 ng/dL (N 0.76-1.46 ng/dL). Anti-thyroglobulin and anti-TPO antibodies were negative. A pituitary MRI revealed an empty sella with arachnoidocele. Other differential diagnosis of SIADH were excluded. The patient was started on oral hydrocortisone 30 mg/day, with a remarkable recovery, with better mood, more energy and appetite, resolution of all symptoms and normalization of the natremia. Conclusion: Hypopituitarism due to an empty sella is a relative rare disorder, whose etiology may be difficult to prove. It usually develops insidiously, with unspecific symptoms, which often delays the diagnosis. In our patient, this severe hyponatremia likely developed over a long time, allowing adaptation to such low levels of Na+. Moreover, the presence of a previously diagnosed hypothyroidism raises the suspicion if this wasn’t the first manifestation of the pituitary disease and if treatment of levothyroxine did not worsen an undetected secondary adrenal insufficiency.

Postpartum Cranial Diabetes Insipidus

Cranial Diabetes Insipidus is a rare diagnosis and rarer still postpartum. We present the case of 24-year-old woman who developed CDI following pregnancy. The patient had developed persistent polydipsia and polyuria 5 months following her first pregnancy. The pregnancy had been complicated by Gestational Diabetes Mellitus, Obstetric Cholestasis and a Postpartum Haemorrhage which had required a 3 unit transfusion of blood. The patient reported feeling fatigued and lightheaded and stated that she had needed to drink water frequently: around 8 litres throughout the day and 4 litres overnight. She reported that she had been unable to breastfeed but the rest of her systemic enquiry was unremarkable. The patient had attributed her symptoms of lethargy to sleepless nights with her new born baby and the polyuria as a consequence of labour and as such had presented for review at her primary care Physician 18 months following delivery.Initial investigations revealed a fasting blood glucose of 4.9 mmol/l, an Adj. Calcium of 2.23 mmol/l and a fasting urine osmolality of 85 mmol/kg. A diagnosis of DI was suspected and was confirmed by water deprivation test: the patient had an inappropriately dilute urine osmolality of 111 mmol/kg when compared to the serum osmolality of 301 mOsm/Kg at the start of the test and her urine failed to concentrate as water was withheld. Administration of DDAVP resulted in appropriate concentration of urine and therefore confirmed the diagnosis specifically as Cranial Diabetes Insipidus.Blood tests revealed normal anterior pituitary function: TSH was 2.78 mU/L, Prolactin was 361 mU/l, LH and FSH were 23.6 U/L and 5.3 U/L, IGF and GH were 197 ug/L and 0.1 ug/l and ACTH was 10 mU/L. Her basal cortisol was 392 nmol/l and was stimulated to 593 nmol/l by SST. MRI Pituitary revealed an unusually flat and broad pituitary gland with a possible tiny lesion in the posterior pituitary suggestive of an adenoma. The patient was established on DDAVP replacement therapy and her quality of life improved: she enjoyed restful sleep and reported less exhaustion. There was no anterior pituitary hormone deficiency 28 months following delivery. DI is a rare diagnosis with an estimated prevalence of 1 in 25000 people. CDI has been commonly reported as being caused by infiltrative or inflammatory pituitary disease, as an iatrogenic sequelae of pituitary surgery or as a result of a congenital defect in the production of vasopressin. We suspect that in this case the patient’s PPH may have resulted in isolated cranial diabetes insipidus though the significance of the MRI scan findings remains unclear. The learning points highlighted by this case are that CDI can occur following pregnancy in an isolated form without anterior pituitary hormone deficiency. We also highlight that patients may misattribute significant symptoms and signs of DI as being a normal part of the postpartum period resulting in a delayed diagnosis.

A Cross-Sectional Study to Evaluate the Safety and Efficacy of the Insulin Tolerance Test

Introduction: The insulin tolerance test (ITT) is the current standard for the diagnosis of pituitary diseases such as growth hormone deficiencies (GHD). Previous reports indicated that the ITT as having a high adverse event profile, and the cosyntropin test as being sensitive enough to diagnose GHD in adults. The purpose of this study is to validate the safety and efficacy of the ITT. Design: Over 400 ITT tests were conducted over the course of 3 years from (2017-2020) at our facility. This study is only focused on adult physiology (Cohort Age 16 - 78) and excludes any pediatric tests. An important measure, time spent in critical state (Tc), is done to know the expected time a patient is to remain hypoglycemic, both for patient expectations and clinician logistics. We did not use a CGM, instead drew blood samples on set intervals for glucose measurements. Since the measurements aren’t continuous, a consistent overestimation is done for all subject encounters to capture the maximum time spent in hypoglycemia. Insulin like growth factor one (IGF-1) was measured before the test was conducted and is listed in the spreadsheet. Growth hormone peaks were and the time to reach that peak (Tp) were also measured. This time is calculated from the listed time of the first dosage of insulin to the time of the GH peak. Other measures listed in the spreadsheet include a brief medical history of the patient, their age, weight, gender, and the blood pressure and heart rate measured at test completion. Any immediate interventions such as intravenous fluid injections were listed. Symptoms of hypoglycemia are excluded as a complication of the test. This is due to the inherent nature of the ITT whose goal is to drop one’s blood sugar past normal ranges. Results: Our results show (0.45%) rate of adverse events. 2 patients in the entire cohort suffered from seizures during their hypoglycemic period. Both of them were successfully aborted with Ativan, and patients were monitored until recovery from post ictal state and discharged home with stable vitals and no acute symptoms. It was later discovered these patients had remote history of epilepsy and should’ve been excluded from this trial. Of the remaining 448 subject encounters, (20%) of them required urgent intervention to BP. Zero of those patients suffered any other symptoms or ongoing adverse effects. 5 patients underwent the ITT twice, again, with no adverse effects. Conclusion: No permanent adverse events or hospitalizations were reported. Based on our findings the clinical safety concerns of the ITT test are minimal compared with the benefit of obtaining an accurate diagnosis in this patient cohort, if done within the correct protocol. Using IGF-1 measures as a determinant of GHD is wildly inaccurate as seen in our results. Combining IGF-1 with the Cosyntropin test is not a good enough measure for diagnosing GHD. The ITT test remains the most accurate and reliable test available today.

Economic and clinical burden of comorbidities among patients with acromegaly

ObjectiveAcromegaly is a rare, pituitary hormonal disorder that requires improved awareness worldwide. The objective of this analysis was to quantify the clinical and economic burden of comorbidities for patients with acromegaly and examine the influence of biochemical control on these outcomes. Study designMarkov cohort decision analytic model consisting of two states, including alive (with and without comorbidity) and dead. MethodsA cohort of patients with acromegaly who had achieved biochemical control, a cohort of patients with acromegaly who had not achieved biochemical control, and a cohort of individuals from the general US population were tracked over a lifetime time horizon. The model tracked the proportion of the alive population that had each comorbidity based on age, sex, presence of acromegaly, and biochemical control status. The proportion of patients with each acromegaly-associated comorbidity were assigned comorbidity-associated costs, disutilities, and increased risk of mortality. ResultsCompared with the general population, controlled acromegaly resulted in $192,000 additional comorbidity-related costs, 0.7 fewer years of life, 2.9 fewer quality-adjusted life years, and 1.1 more comorbidities across the remaining lifespan. Compared with the general population, uncontrolled acromegaly resulted in $285,000 additional comorbidity-related costs, 0.9 fewer years of life, 4.2 fewer quality-adjusted life years, and 1.6 more comorbidities across the remaining lifespan. ConclusionsAchieving biochemical control is associated with improvements in cost, quality of life, and mortality, albeit not to the level of the general population. A multimodal treatment strategy including biochemical control and management of comorbidities is necessary to improve patient outcomes.

Spectrum of adrenal disorders in a referral hospital of Bangladesh

Background: Adrenal diseases are common and their presentations are variable. This study aimed to determine the frequency and presenting features of various adrenal diseases in a tertiary care hospital of Bangladesh.
 Methods: This retrospective descriptive study was carried out in Endocrinology in-patient department of BIRDEM General Hospital, Dhaka, Bangladesh, from October 2017 to December 2018. During this time, total 745 patients were screened; out of whom 91 had adrenal diseases.
 Results: Mean age of the study population was 39.6±11.5 years. Among them, 65.9% were male. Most (75.8%) cases had adrenal insufficiency, followed by endogenous Cushing’s syndrome (8.8%), Conn’s syndrome (6.6%), non-functioning adenoma (3.3%), congenital adrenal hyperplasia (CAH) (2.2%), pheochromocytoma (1%), myelolipoma (1%) and adrenal carcinoma (1%). According to functional status, most (75.8%) were hypofunctional. Of the patients with adrenal insufficiency, secondary adrenal insufficiency was the most common (78.3%). Among the secondary adrenal insufficiencies, 75.9% had iatrogenic adrenal insufficiency and 24.1% had pituitary diseases. Regarding the cases of primary adrenal insufficiency, 20% cases were due to adrenal tuberculosis, 6.6% were due to adrenal histoplasmosis and 73.3% were idiopathic. Most of the adrenal insufficiency patients presented with hypotension (66.7%), followed by gastrointestinal symptoms (76.8%), weight loss (55.1%), hyponatraemia (42%), pigmentation (13%) and hypoglycemia (10%). In this study, 9.9% patients had adrenal incidentaloma. Most of them (88.9%) were benign. Causes of Cushing’s syndrome among the study population were, iatrogenic (66.7%), adrenal (16.7%) and pituitary cause (16.7%). In this study, 16.5% patients had endocrine hypertension and the causes were endogenous Cushing’s syndrome (53.3%), Conn’s syndrome (40%) and pheochromocytoma (6.7%). Of the hypertensive patients, 60% had co-existing hypokalemia.
 Conclusion: Adrenal insufficiency was the most common adrenal disorder followed by endogenous Cushing’s syndrome, Conn’s syndrome, non-functioning adenoma and other adrenal disorders. Presentations of adrenal disorders are variable. Among the cause of adrenal insufficiency iatrogenic adrenal insufficiency was the most common.
 Birdem Med J 2021; 11(2): 103-107

Multi-omic profiling of pituitary thyrotropic cells and progenitors

BackgroundThe pituitary gland is a neuroendocrine organ containing diverse cell types specialized in secreting hormones that regulate physiology. Pituitary thyrotropes produce thyroid-stimulating hormone (TSH), a critical factor for growth and maintenance of metabolism. The transcription factors POU1F1 and GATA2 have been implicated in thyrotrope fate, but the transcriptomic and epigenomic landscapes of these neuroendocrine cells have not been characterized. The goal of this work was to discover transcriptional regulatory elements that drive thyrotrope fate.ResultsWe identified the transcription factors and epigenomic changes in chromatin that are associated with differentiation of POU1F1-expressing progenitors into thyrotropes using cell lines that represent an undifferentiated Pou1f1 lineage progenitor (GHF-T1) and a committed thyrotrope line that produces TSH (TαT1). We compared RNA-seq, ATAC-seq, histone modification (H3K27Ac, H3K4Me1, and H3K27Me3), and POU1F1 binding in these cell lines. POU1F1 binding sites are commonly associated with bZIP transcription factor consensus binding sites in GHF-T1 cells and Helix-Turn-Helix (HTH) or basic Helix-Loop-Helix (bHLH) factors in TαT1 cells, suggesting that these classes of transcription factors may recruit or cooperate with POU1F1 binding at unique sites. We validated enhancer function of novel elements we mapped near Cga, Pitx1, Gata2, and Tshb by transfection in TαT1 cells. Finally, we confirmed that an enhancer element near Tshb can drive expression in thyrotropes of transgenic mice, and we demonstrate that GATA2 enhances Tshb expression through this element.ConclusionThese results extend the ENCODE multi-omic profiling approach to the pituitary gland, which should be valuable for understanding pituitary development and disease pathogenesis.Graphical abstract

IgG4-related hypophysitis.

Hypophysitis is a rare pituitary inflammatory disorder classified in different ways. Immunoglobulin G4-related disease (IgG4-RD), also a rare disease is a systemic fibro-inflammatory condition characterized by infiltration of tissue with IgG4-positive plasma cells; however prevalence of both of them probably is underestimated. In this paper, we present an Iranian patient with biopsy-proven IgG4-related hypophysitis and then review the clinical characteristics, laboratory, imaging, pathologic findings and therapeutic management as well as prognosis of 115 published cases of hypophysitis secondary to IgG4-related disease.

Breast cancer in multiple endocrine neoplasia type 1 (MEN1).

SummaryA 38-year-old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.1304delG) through predictive genetic testing, following a diagnosis of familial hyperparathyroidism. Routine screening for parathyroid and pituitary disease was negative. However, cross-sectional imaging by CT revealed a 41 mm pancreatic tail mass. Biopsy via endoscopic ultrasound confirmed the lesion to be a well-differentiated (grade 1) pancreatic neuroendocrine tumour (pNET) with MIB1<1%. Biochemically, hyperinsulinaemic hypoglycaemia was confirmed following an overnight fast, which was subsequently managed by diet alone prior to definitive surgery. Pre-operative work-up with octreotide SPECT CT demonstrated avid tracer uptake in the pancreatic lesion and, unexpectedly, a focal area of uptake in the left breast. Further investigation, and subsequent mastectomy, confirmed ductal carcinoma in situ pT2 (23 mm) grade 1, N0 (ER positive; HER2 negative). Following mastectomy, our patient underwent a successful distal pancreatectomy to resect the pNET. Loss of heterozygosity (LOH) at the MEN1 locus was found in both the breast tumour and pNET, thereby in keeping with a 'two-hit' hypothesis of oncogenesis, a suggestive but non-definitive clue for causation. To obtain further support for a causative relationship between MEN1 and breast cancer, we undertook a detailed review of the published literature which overall supports the notion that breast cancer is a MEN1-related malignancy that presents at a younger age and histologically, is typically of ductal subtype. Currently, clinical guidance regarding breast cancer surveillance in MEN1 does not exist and further research is required to establish a clinical and cost-effective surveillance strategy).Learning pointsWe describe a case of pNET and breast cancer diagnosed at a young age of 38 years in a patient who is heterozygous for a pathogenic MEN1 variant. Loss of the wild-type allele was seen in both breast tissue and pNET specimen.Breast cancer may be an under-recognised MEN1-associated malignancy that presents at a younger age than in the general population with a relative risk of 2–3.Further research is required to determine the cost-effectiveness of breast cancer surveillance approach at a younger age in MEN1 patients relative to the general population .

A case of carcinoma larynx with overt hypothyroidism scheduled for feeding jejunostomy

The function of the thyroid gland is to secrete sufficient amount of thyroid hormones for regulation of cellular metabolism throughout the body. Patients need medical care for hyper functioning (hyperthyroidism) or hypo functioning (hypothyroidism) of the thyroid gland. Hypothyroidism is a very common disease affecting 0.5% to 0.8% of the adult population in the world. Primary hypothyroidism results in a decreased production of thyroid hormones despite adequate or increased levels of TSH and accounts for 95% of all cases of hypothyroidism. Secondary hypothyroidism results due to hypothalamic or pituitary disease that accounts for 5% of cases of hypothyroidism [1]. Hypothyroidism can cause decreased myocardial contractility, baroreceptor dysfunction, weight gain, non-pitting edema, hyponatremia, decreased ventilatory response to hypoxia and hypercarbia, diminished gastrointestinal function and impaired drug metabolism. Feeding jejunostomy is a surgical procedure by which a tube is inserted in the lumen of the proximal jejunum, primarily to provide enteral nutrition or administer medications. This procedure becomes a vital path for providing nutrition and medication when a person becomes unable to swallow due to obstruction of the food pipe [2]. Carcinoma larynx is a disease in which malignant cells originate from larynx mostly squamous-cell carcinomas which can invade the surrounding structures. Here, we report on the anaesthetic management of a patient of carcinoma larynx with overt hypothyroidism for feeding jejunostomy.

POS-589 HYPOTHALAMIC PITUITARY AXIS DISORDERS IN HEMODIALYSIS PATIENTS: AN ANALYSIS OF 15 CASES.

Hypothalamic pituitary axis disorders are still underestimated in hemodialysis patients. Even though commonly not associated with apparent diseases, they can induce or worsen many complications. The aim of this study was to investigate basic endocrinological disorders among patients with recent deterioration of general condition or hemodynamic disorders. We investigated the endocrine profile of hemodialysis patients with recently exacerbated acute complications, including severe weakness, acute hypotension, severe hypoglycemia and/or the onset of chronic hypotension with no cardiac dysfunction. We analyzed the blood levels of the thyroid-stimulating hormone (TSH), the adrenocorticotropin hormone (ACTH), the growth hormone (GH), the follicle stimulating hormone (FSH), the luteinizing hormone (LH), the prolactin and sexual hormones each time we found a gonadotrophic disorder. Over the 47 patients of our hemodialysis unit, we colligated 15 patients with new symptomatology corresponding to the signs mentionned above. There were 7 males and 8 females, with sex ratio 0,87. Age ranged from 22 to 68 years with an average of 46,5 years. Underlying renal disease consists on an end-stage undetermined glomerulonephritis in 5 cases, membranous glomerulonephritis in one case, Alport syndrome in one case, nephroangiosclerosis in one case, diabetic nephropathy in 2 cases, and tubulointerstitial nephritis in 5 cases. Hemodialysis was carried on for all patients with an average of 152,75 months [55-351months], three times a week, four hours each session, with blood pump flow at 300ml/min and dialysate fluid flow at 500ml/min. Eleven patients were dialysate with high flux membrane, four with medium flux membrane. Symptoms at time of the endocrine check were: severe hypoglycemia in 3 cases, chronic hypotension in 7cases, severe weakness in 8 cases.The mean hormones levels and intervals are summarized in figure1.We noticed peripheric hypothyroidism in 3 patients, moderate hyperprolactinemia in 7 cases, hypergonatrophic hypogonadism in3 cases and hypogonadotrophic hypogonadism in 2 cases. One patient presents an anterior pituitary deficiency with three axes affected (hypogonadotrophic hypogonadism, central adrenal deficiency and central hypothyroidism). All abnormalities found were treated with replacement hormonal therapy. We noticed an improvement in the initial symptomatology in all cases. As kidney function declines, sexual hormones, the hypothalamic–pituitary axis, and the thyroid frequently function aberrantly. The pathogenesis of those disorders is multifactorial, with extrinsic and intrinsic factors. Their screening in hemodialysis patients must be early because of the added risk of many complications’ occurrence. Their management requires multidisciplinary approach.

Pituitary Disorders and COVID-19, Reimagining Care: The Pandemic A Year and Counting.

Pituitary Disorders and COVID-19, Reimagining Care: The Pandemic A Year and Counting.

Pituitary Hypertrophy

Pituitary adenomas are the most common cause of sellar masses although there are a number of other neoplastic, infectious, inflammatory, developmental, and vascular etiologies that should be considered. Pregnancy promotes a physiological increase in the size of the maternal pituitary gland, especially adenohypophysis. The normal maturation sequence of the pituitary gland apparently involves a period of physiological hypertrophy in teenagers. As most incidentalomas in pediatric patients are not associated with hormonal hypersecretion or hypopituitarism, and structural progression is not common, it is hypothesized that the extensive follow-up assessment recommended for adults might not be necessary for children. Patients presenting with a pituitary lesion should undergo a complete history and physical examination that includes evaluations for evidence of hypopituitarism and hormone hypersecretion syndrome. Patients with evidence for either of these conditions should undergo an appropriately directed biochemical evaluation. All patients presenting with a pituitary lesion abutting the optic nerves or chiasm on magnetic resonance imaging should undergo a formal visual field examination. Emergencies in pituitary disease can result from the failure of the pituitary gland to secrete one or more pituitary hormones or from neuro-ophthalmological symptoms due to the mass effect of an expanding hypothalamic-pituitary lesion. Early diagnosis and prompt treatment of endocrine emergencies are mandatory.

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty.

Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive capacity. In girls, menarche is a late marker of puberty. Primary amenorrhea is defined as the absence of menarche in ≥ 15-year-old females with developed secondary sexual characteristics and normal growth or in ≥13-year-old females without signs of pubertal development. Furthermore, evaluation for primary amenorrhea should be considered in the absence of menarche 3 years after thelarche (start of breast development) or 5 years after thelarche, if that occurred before the age of 10 years. A variety of disorders in the hypothalamus-pituitary-ovarian axis can lead to primary amenorrhea with delayed, arrested or normal pubertal development. Etiologies can be categorized as hypothalamic or pituitary disorders causing hypogonadotropic hypogonadism, gonadal disorders causing hypergonadotropic hypogonadism, disorders of other endocrine glands, and congenital utero-vaginal anomalies. This article gives a comprehensive review of the etiologies, diagnostics and management of primary amenorrhea from the perspective of pediatric endocrinologists and gynecologists. The goals of treatment vary depending on both the etiology and the patient; with timely etiological diagnostics fertility may be attained even in those situations where no curable treatment exists.

Best Achievements in Pituitary and Adrenal Diseases in 2020.

Significant progress in pituitary and adrenal diseases was made in 2020. This review presents major translational and clinical advances in research on pituitary and adrenal diseases, encompassing their epidemiology, pathogenesis, diagnosis, and clinical management. We address the controversy regarding the nomenclature of pituitary neuroendocrine tumors, omics-based molecular classification of pituitary adenomas, and novel drugs for Cushing’s disease in the field of pituitary diseases. In the field of adrenal diseases, we cover big data-driven epidemiology of adrenal tumors, steroid profiling as a new diagnostic tool, and the utility of scoring systems in the decision-making process of managing primary aldosteronism. This brief article will broaden readers’ understanding of pituitary and adrenal diseases.

Update on vertebral fractures in pituitary diseases: from research to clinical practice.

Derangement of pituitary hormone axes can induce changes in bone remodeling and metabolism with possible alterations in bone microarchitectural structure and increased susceptibility to fractures. Vertebral fractures (VFs), which are a hallmark of skeletal fragility, have been described in a very large number of patients with pituitary diseases. These fractures are clinically relevant, since they predispose to further fractures and may negatively impact on patients' quality of life. However, the management of skeletal fragility and VFs in the specific setting of pituitary diseases is a challenge, since the awareness for this disease is still low, prediction of VFs is uncertain, the diagnosis of VFs cannot be solely based on a clinical approach and also needs a radiological and morphometric approach, the risk of fractures may not be decreased via treatment of pituitary hormone disorders, and the effectiveness of bone-active drugs in this setting is not always evidence-based. This review is an update on skeletal fragility in patients with pituitary diseases, with a focus on clinical and therapeutic aspects concerning the management of VFs.

EndoERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases.

Patients' perceptions on quality of care and gaps in diagnosis/management of rare endocrine diseases (RED) were collected in a 21-item questionnaire, answered on-line in the patients' language. There were 598 (66% females) responses from 29 countries reflecting pituitary, adrenal, thyroid, parathyroid, gonadal, genetic and autoimmune diseases. While in 36% a diagnosis was made in <1 year, in 28% it took >5 years. In 64% it took 2-7 professionals for a correct diagnosis, after which in >50% a specialist/specific treatment was available within 1 month; 60% were satisfied with current treatment. Most (59-67%) would have liked access to psychological support, social worker, dietician or physiotherapist/rehabilitation specialists. Half were satisfied with information received, treatment and health care follow-up; 87% contacted patient/support groups; 78% agreed that "The personal limitations related to the disease, impact on my everyday quality of life". Conclusion: Diagnostic delay in RED is still unsatisfactory in Europe, as well as specific needs impacting QoL.

Pituitary disease: An update.

Pituitary lesions are present in >10% ofthe population. Approximately one in 1000 people has a symptomatic pituitary tumour, which may cause clinical problems from mass effect, hormonal hypersecretion and impairment of normalpituitary function. The aim of this article is to outline thepotential causes of a sellar and parasellar mass, with an emphasis onthe presenting clinical features andscreening investigations that areapplicable to doctors working intheprimary care setting. There is a broad range of causes ofasellar/parasellar mass. Pituitary adenomas and Rathke's cleft cysts arethe most frequently encountered. Prolactinomas are the most common functioning tumour and tend to present as macroadenomas in men, while hyperprolactinaemia is associated with 15% of secondary amenorrhoea in women. Acromegaly and Cushing's disease are rare but important diagnoses to detect. Pituitary disease isoptimally managed in a specialist centre in the context of an established multidisciplinary team.

Laser Acupuncture Treatment of Equine Cushing’s Syndrome

Equine Cushing’s syndrome (ECS), or pituitary pars intermedia dysfunction (PPID), is a chronic progressive pituitary disease that occurs almost exclusively in older horses and ponies. Management of this chronic disease can be difficult, particularly in individuals that don’t respond to the medication, pergolide, which is one of the only effective treatments at this time. The use of low-level impulse lasers (LLL) to treat ECS are introduced in this paper. They have been applied focally to stimulate acupoints (laser acupuncture) and topically over wounds, joints and other tissues to increase circulation and promote healing. Laser acupuncture therapy is an effective treatment method, which is relatively easy to learn and apply. It is an extremely effective therapy for numerous chronic degenerative diseases. The cases presented in this paper are a small sample of well over 30 ECS patients that have been successfully treated with laser acupuncture. Treatment protocols are presented for optimum laser acupuncture therapy along with a review of laser mechanism of action and appropriate selection. Treatment usually takes between 6 weeks and 3 months, and it appears that even horses that have had chronic disease for years can still have positive clinical outcomes.

Pituitary disease and recovery: How are stem cells involved?

The pituitary gland embodies our endocrine hub and rigorously regulates hormone balances in the body, thereby ruling over vital developmental and physiological processes. Pituitary dysfunction and disease strongly impact the organism's biology. Physical damage, tumour development and ageing all negatively affect pituitary state and functionality. On top of its hormone-producing cells, the pituitary contains a population of stem cells. Not only their physiological role is still largely unknown, also whether or how these stem cells are involved in pituitary disease and recovery from defective functionality remains enigmatic. Here, we summarize what is known on the phenotypical and functional behaviour of pituitary stem cells in diseased or dysfunctional gland, as particularly caused by injury, tumourigenesis and ageing.

Relationship Between Pituitary Siderosis and Endocrinological Disorders in Pediatric Patients with Beta-Thalassemia.

IntroductionExcess iron accumulation occurs mainly in organs such as reticuloendothelial cells, the pituitary gland, and the pancreas in beta-thalassemia because of blood transfusions. In the present study, it was aimed to investigate the relationship between T2* values on magnetic resonance imaging (MRI) and clinically diagnosed pituitary endocrinological disorders in children with thalassemia major.MethodsThis study enrolled patients diagnosed with beta-thalassemia at pediatric hematology outpatient clinics. In the study, in addition to the medical history of the patients, routinely performed tests, including hemoglobin electrophoresis, routine biochemical tests, and tests for pubertal development (follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, testosterone, etc.), as well as iron deposition measured by hepatic MRI T2* (STAR) sequence, were retrospectively assessed. A total of 29 patients were enrolled.ResultsHypothyroidism was detected in 34.6% (9/26) of patients, short stature in 37% (10/27), and pubertal retardation in 50% (14/28) of the patients. There was no significant correlation between hypothyroidism and pituitary MRI T2* values. No significant correlation was found between laboratory parameters and pituitary MRI examination. Although the sensitivity of T2* levels could rise above 80%, their specificity remained low. This is one of the major limitations of the pituitary MR T2* study for the prediction of short stature. The best lower cut-off level of MR T2* to predict short stature was found 14.6 ms.ConclusionThe diagnostic specificity pituitary MR examination levels for short stature were detected as low. Thus, the clinical standardization and validation of pituitary MR T2* values examination are needed before clinical follow-up and multifaceted studies are needed.