Endocrine Abstracts

The concentration of many neuropeptides in the brains of ectothermic vertebrates is several orders of magnitude higher than in the brains of mammals. We have taken advantage of this singular situation to isolate from the brain of the European green frog, Rana esculenta, a number of regulatory peptides that are orthologous to mammalian neuroendocrine peptides. These include α-MSH, γ-MSH, two tachykinins, two GnRH variants, CRH, PACAP, NPY, CGRP, CNP, GRP, and O...

It is now well demonstrated that, in the human adrenal gland, aldosterone and cortisol productions are stimulated by autocrine/paracrine factors, like serotonin (5-HT) and arginine vasopressin (AVP). Several data indicate that these signals may also be involved in the regulation of corticosteroidogenesis in adrenocortical hyperplasias and tumors. 5-HT is detected in clusters of steroidogenic cells in aldosterone-producing adrenocortical adenomas (APAs), and in both ACTH-indepe...

Introduction: Macroprolactin (maPRL) is a high molecular weight variant of prolactin (PRL) which has reduced bioactivity. The purpose of the present study was to determine the clinic-analytical repercussion of the presence of maPRL in patients with hyperprolactinaemia.Patients and methods: A polyethylene glycol (PEG) precipitation test was used to detect the presence of maPRL in all consecutive samples with prolactin levels >50 ng/ml (1060 mUIL). A r...

Introduction: Carney Complex (CNC) is a rare genetic syndrome, with multiple endocrine and non-endocrine neoplasia, mostly due to inactivating mutations of the PRKAR1A gene. CNC has a wide spectrum of manifestations : most frequently skin lesions, cardiac myxomas and primary pigmented nodular adrenocortical dysplasia (PPNAD), but also thyroid nodules, schwannomas, breast tumors (mainly myxoid fibroadenomas and ductal adenomas)… The present study was designed to ...

Introduction: PBMAH is a rare but heterogeneous disease, characterized by multiple benign adrenal macronodules with variable levels of cortisol excess. In 2013, our team discovered germline heterozygous inactivating mutations of ARMC5, acting as a tumor suppressor gene. ARMC5 mutation rate is 50% in patients with PBMAH treated by adrenalectomy for severe hypercortisolism, 80% in familial cases and 20% in sporadic cases according to the current literature. The...

Background: Nonclassic congenital adrenal hyperplasia (NC-CAH) caused by mutations in CYP21B gene is an inherited disorder with various clinical forms in relation to the 21-hydroxylase (21OH) activity. Classic forms are recognized early during neonatal period as salt-wasting crisis or genital ambiguity, while non-classic form presents later with wide hyperandrogenic spectrum. Genetic testing has proved to be the definitive diagnostic method.Aim: To obser...