Endocrine Abstracts

Introduction: Congenital hyperinsulinism (CHI) typically presents in the neonate, however a minority of cases (~ 35%) present later in infancy and childhood. We report the challenging case of an older infant presenting with hypoglycaemia, diagnosed with CHI and managed entirely within a secondary care setting.Case report: A 9-month-old macrosomic (99th centile) infant presented to the Children’s Emergency Department with hypoglycaemia and a 1 week h...

Aim: serum cortisol dynamic after transsphenoidal pituitary surgery (TSS) in predicting remission and recurrence of CD.Methods: A cohort of 103 CD patients from a referral center was prospectively analyzed at 111 TSS in 6.0±4.8 years of follow-up. Twenty patients received glucocorticoids in transoperative and had serum cortisol measured at 10–12 days after TSS (Protocol I). Eighty six patients had serum cortisol measured at each 6 h in the firs...

Endotoxemia induces behavioral changes, including a decrease of food intake. Several studies have demonstrated that ADX modifies central nervous system responsiveness to different paradigms. Control of energy homeostasis is regulated by interplay of peripheral signaling conveyed to the hypothalamus and brainstem that control appetite and meal size. We investigated the activity of oxytocin (OT) neurons in the paraventricular nucleus of the hypothalamus (PVN) and tyrosine hydrox...

The endocannabinoid system is involved in several homeostatic and neuroendocrine functions. In the present study, we evaluated the effects of type 1 cannabinoid (CB1) receptor antagonist, rimonabant (10 mg/kg, p.o.), on hormone secretion, neuronal activation and mRNA expression in the hypothalamus following isotonic (I−) or hypertonic (H−) blood volume expansion (BVE). Our results showed that the secretion of both oxytocin (OT) and vasopressin (AVP) were increased ...

Introduction: Gynecomastia is a benign excessive proliferation of glandular tissue in the male breast and results from an increased breast estrogen/androgen activity ratio. It may be physiological (infancy, puberty or aging) or pathological. The most common cause is drug-induced. Although hyperthyroidism is a rare cause(1.5%), gynecomastia occurs in up to 25-40% of males with Graves’ disease and is often undiagnosed. Its development as the first manifestation of this thyr...

Introduction: Severe hypercalcemia is defined as a total serum calcium level >14 mg/dl or ionized calcium >10 mg/dl . The most common causes are primary hyperparathyroidism (PHPT) and neoplasms (90% of cases). Vitamin D intoxication is an extremely rare cause. Case Report: A 56-year-old man presented to the emergency department with vomiting, generalized weakness and complaints of imbalance over one week. Upon physical examination, he displayed c...

Introduction: Pituicytoma is a low-grade glioma of the suprasellar and sellar regions that is rarely described (about 60 cases described in the literature). The clinical, laboratory and neuroradiological findings are not pathognomonic, and therefore definitive diagnosis is only possible after surgery and histopathological study. Total resection is the treatment of choice, since subtotal removal can often lead to recurrence or progression.Case report: We ...

Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic...

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease. Mutations in various genes have been implicated in its pathophysiology, the most frequent being ANOS1, FGFR1 and GNRHR genes. FGFR1 is essential for cell proliferation, differentiation and migration during embryonic development and is involved in GnRH neuron development and maintenance. Klotho-beta protein (KLB) is expressed in the postnatal hypothalamus and is t...

Introduction: Angiosarcomas account for < 1% of all sarcomas, and are highly agressive neoplasms whose clinical course is striking: local recurrence, metastasis, and a high mortality rate. Primary angiosarcoma of the adrenal gland was first described in 1988 by Kareti et al. and is very rare with, so far, only 51 reported cases. Case report: A 49-year-old male, without prior malignancy, presented with a 4.9x5.9 cm right adrenal nodule and a 2.4 cm le...