Endocrine Abstracts

GPR101 is an orphan G-protein coupled receptor with unknown ligand. In 2014, an international study clearly pointed to a strong association between this receptor and the X-linked acrogigantism (X-LAG) syndrome, which begins in childhood and causes the “tallest giants”. The children (carriers of the GPR101 duplication on the X chromosome) grow abnormally even before they are one year old, secrete phenomenal quantities of growth hormone, and develop pituitary adenomas ...

Germline AIP mutations (AIPmut) predispose to young onset somatotroph pituitary adenomas (GHPA) and gigantism. AIPmut GHPA are often aggressive and resistant to pharmacological treatment, which may be especially challenging in the paediatric setting. We report our experience with two young Italian AIPmut male patients with incipient gigantism due to childhood pituitary macroadenomas, who both experienced recurrent ...

MEN1 germline mutations are identified in 70% of the familial forms of MEN1 and about 10%of the sporadic cases. Little is known about clinical differences between MEN1 with and without identification of MEN1 germline mutation particularly in terms of PA characteristics.Aim: To compare the clinical features of PA in MEN1 cases with and without germline MEN1 mutation and sporadic cases of PA. Patients and methods: Data were obtained in...

Introduction: Since the 1990’s cabergoline has become the treatment of choice in prolactinomas, allowing rapid and efficient hormonal and tumoral control in most cases. Evidence of cardiac valculopathy was demonstrated in patients treated by dopamine agonists for Parkinson disease, which led to curtailment of their use in this disease. Retrospective studies in hyperprolactinemia patients treated with cabergoline did not show such an effect, probably due to much lower dose...

Introduction: Drospirenone is a synthetic progestin usually found in combination with ethynilestradiol in oral contraceptive formulas. In 2007, this compound was also used in hormonal replacement therapy during menopause. Drospirenone shows antimineralocoricoïd effect due to an analogy of structure with aldosterone. This effect counteracts the estrogen stimulating action of renin–angiotensin–aldosterone (RAA) system, lowering water retention symptoms due to clas...

Familial acromegaly (FA) is a rare disease with less than 150 cases published. For its diagnosis (FA), two or more cases of acromegaly in the same family and the absence of MEN1 and/or Carney syndrome are required. FA is in the familial isolated pituitary adenomas (FIPA) group although its genetic condition is still under investigation.The index case is an asymptomatic 43-year-old woman with a 4mm pituitary micro-adenoma. There were not acromegaly signs/...

Introduction: Short stature is a common cause of consultation in pediatric endocrinology. In 80% of cases, the etiology remains unknown1 and classified as « idiopathic short stature. We report the case of a child with a heterozygote complete deletion of the IGF1 gene.Case report: A 21 months old boy was referred in pediatric endocrinology because of his extreme short stature. The parents of Sicilian origin are not consanguineous. The fath...

Introduction: Cushing’s disease (CD) is a severe disease, associated with an increased rate of comorbidities and mortality. Remission rate after surgery of pituitary tumor, is around 78%. Relapse occurs in 13% of patients within 10-years after surgery. According to guidelines, patients with unfeasible or non-curative surgery, require additional treatment, including medical therapies. Metyrapone, inhibits 11ß-hydroxylase enzyme, blocking the final step of cortisol syn...

Introduction: Parathyroid carcinoma (PCa) is a rare presentation of primary hyperparathyroidism (PHPT), accounting for less than 1% of cases. Differentiating parathyroid cancer from benign hyperparathyroidism is clinically challenging. Some previous work suggest that there is a paraneoplastic hCG production in parathyroid cancer (Stock et al 1987, Rubin et al 2008). In this study, we aimed to investigate whether the hCG+β kit from Roche Diagnostics could distinguish PCa p...

Obstructive sleep apnea syndrome (OSAS) is a frequent cardiovascular risk factor in acromegaly. We aimed to retrospectively evaluate sex-related differences in OSAS characteristics and indications of non-invasive ventilation.Patients and Methods: Thirty-nine adult patients (16 F, 23 M) from two European centers were studied by home sleep apnea test (HSAT) or polysomnography (PSG). OSA was defined by an apnea-hypopnea index (AHI) ≥5/h and analyzed a...