Endocrine Abstracts

The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1–13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO), together with end-organ resistance to the action of different hormones that activate the Gs-coupled pathways, primarily PTH, TSH, gonadotropins, and GHRH. In PHP-Ib patients AHO is classically absent, Gsα acti...

In this study we employed a novel bioluminescence resonance energy transfer (BRET) biosensor to study the coupling specificity of somatostatin receptor 5 (SST5) and its naturally occurring mutant R240W in living cells. Our previous data demonstrated that SST5 carrying the R240W mutation as well as other mutations in the third intracellular loop maintained the ability to inhibit intracellular cAMP levels similarly to the wild-type but failed to mediate the inhibition of intrace...

Pseudohypoparathyroidism (PHP) type I includes two major subtypes, Ia and Ib. About 70% of Ia patients, characterized by Albright hereditary osteodystrophy and multihormone resistance (PTH/TSH/GHRH/gonadotropins), carry point mutations in GNAS exons encoding Gsα. About 60% of Ib patients, with hormone resistance limited to PTH and TSH, have methylation defects within GNAS locus (sporadic or genetic-based). Recently, methylation defects were detected in pts with Ia phenoty...

Introduction: Disorder of water and electrolyte balance may develop after transsphenoidal (TNS) surgery for pituitary adenomas. In particular, delayed hyponatremia (Na<135 mEq/l) due to SIADH is reported in 8–35% of patients and usually resolves with fluid-intake restriction within 6 days. The possible role of vasopressin-2 receptor antagonists in this clinical setting has not been elucidated.Case report: We report a case of a 57-years-old Cauca...

The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1–13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward multiple hormones (PTH/TSH/GHRH/gonadotropins), whereas PHP-Ib patients classically display hormone resistance limited to PTH and TSH. Incoming data suggest that the two diseases share more genetic and clini...

Context: Most of the clinical data on safety profile of desmopressin (DDAVP), i.e. an effective treatment of both polyuric conditions and bleeding disorders, originates from studies on tailoring of drug treatment, whereas few reports describe severe side effects secondary to drug–drug interaction.Objective: To describe a case of severe hyponatremia complicated with seizure and coma due to the intake of non steroidal anti-inflammatory drugs (NSAIDs) ...

The two regulatory subunits (R1 and R2) of PKA are differentially expressed in several cancer cell lines and studies indicate distinct roles for these subunits in growth control. Recently, mutations of the regulatory subunit 1A of PKA gene have been identified in patients with Carney complex (CNC). The aim of this study was to evaluate the expression of the different PKA regulatory subunits (R1A, R2A, R2B) in adrenocortical tumors not associated with CNC, as well as the effect...

Thyrotropin-secreting pituitary adenomas (TSH-omas) account for less than 1% of all pituitary adenomas. Here we report retrospective data of 17 patients (seven M and 10 F) with TSH-oma followed at our centre from 1990 to present. Median follow-up time was 9.7 years. The mean age at diagnosis was 43±12 years. Radiological evaluation revealed macroadenomas in 11 of 17 patients (71.6%). Macroadenomas were extrasellar in 58.4% of cases, while only one microadenoma had extrase...

State of the art: In pharmacology, human chorionic gonadotropin (hCG) is considered equivalent to luteinising hormone (LH) since both act on the same receptor. Thus, when testicular function needs to be clinically restored (i.e. in case of hypogonadotropic hypogonadism [HH]), hCG is used instead of LH. However, growing evidences showed LH and hCG activate different molecular pathways and offer different outcomes in women undergoing assisted reproduction. The different action b...