Endocrine Abstracts

Poor hormonal and tumour responses to somatostatin analogues (SSA) in acromegaly can occur although the aetiology is often unclear. Two genetic syndromes are associated with relative SSA resistance: acromegaly due to AIP mutations (AIPmut) and the newly described X-linked acrogigantism (X-LAG) syndrome due to chromosome Xq26.3 microduplications. We studied whether SSA resistance in these conditions was related to somatostatin receptor (SSTR) levels in tumour tissues. We studie...

Familial hypocalciuric hypercalcaemia (FHH) is a characteristically asymptomatic condition that is caused principally by calcium sensing receptor gene (CASR) mutations and less frequently by GNA11 or AP2S1 mutations. We report a case of recurrent symptomatic pancreatitis in an FHH patient. The 17-year-old patient was hospitalized with abdominal pain and raised pancreatic enzymes due to acute pancreatitis. The only predisposing factor on investigation was a very elevated serum ...

Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) predispose to pituitary adenomas in young patients, often presenting as familial isolated pituitary adenoma (FIPA) kindreds. Pituitary adenomas in patients with AIP mutations (AIPmut) are usually somatotropinomas, which are more aggressive and have poorer responses to somatostatin analogues than their non-mutated counterparts. Given the rarity of this condition, the molecular pathogenesis of the...

Introduction: Generously supported by IPSEN)-->Craniopharyngiomas (CP) are benign tumors that arise from remnants of the Rathke’s pouch. Classically, they are classified as cystic or calcified tumors. The presence of hormonal receptors in CP has been reported in in vitro studies but only eight cases growing during pregnancy have been published in literature.Case report: We report a 32-year-old wom...

Introduction: It has been estimated that 15–20% of FIPA families harbor an AIP gene mutation (AIPmut). To our knowledge ~50 sequence variants -pathological and otherwise- have been described to date. We report a new FIPA family with an extensive genealogy, in which 4 members have pituitary adenomas in the setting of a novel AIPmut.Patients and methods: The index patient is a 37-year-old man, who presented with childhood onset of somatotropinoma and ...

Object: Pheochromocytomas and paragangliomas (PPGLs) are rare tumors that are responsible for an inappropriate production of catecholamines. They are heritable in 40% of cases and can integrate different genetic syndroms. Thus, there are several interests to detect them precociously: avoid comorbidities due to the catecholamine hypersecretion, search syndroms and manage their related manifestations and screen the families. The objectives of this study were to separate PPGLs in...

Introduction: Auto-immune polyglandular syndrome type 2 (APS-II) is an autoimmune condition which combines Addison’s disease (primary adrenal insufficiency) with another autoimmune pathology like thyroiditis, diabete mellitus, primary hypogonadism, vitiligo, Biermer anemia, etc. Patients can develop those pathologies concurrently or many years after the first manifestation. Prevalence of APS-II is 1 or 2 cases/100.000/year and the sex ratio is 3 women for 1 man. Genetic t...

Introduction: Thanks to advances in genetics, idiopatic short stature have, more frequently, a molecular diagnosis. Mutations in the ACAN gene are responsible for different forms of syndromic short stature but were also described in association with idiopathic short stature or with joint damage and advanced bone age. Transmission is autosomal dominant. Less than 25 mutations have been described since 2010 and are localized all along the protein. The ACAN gene...

Background: Adult GHD results from insufficient growth hormone (GH) secretion from the anterior pituitary gland and may represent either a continuation of childhood-onset GHD or GHD acquired during adulthood. Clinically, adult GHD is associated with central adiposity, decreased lean muscle mass, increased fat mass, decreased bone mineral density, and reduced quality of life. Current standard of care consists of GH replacement via daily injections. Lonapegsomatropin (SKYTROFA; ...

Cowden syndrome is an autosomal dominant disorder characterized by germline mutations in the PTEN tumour suppressor gene on 10q23.3 which mediates cell-cycle arrest and apoptosis. The diagnosis is primarily based on clinical findings including a combination of mucocutaneous lesions (trichilemmomas), macrocephaly, thyroid lesions (mainly follicular adenoma or carcinoma) and breast and endometrial cancer. The prevalence is estimated at 1/200 000. Lifetime risk for developing bre...