Endocrine Abstracts

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Kallmann syndrome (KS) is a genetic disorder associating pubertal failure with congenital absent or impaired sense of smell. KS is related to defective neuronal development affecting both the migration of olfactory nerve endings and GnRH neurons. The discovery of several genetic mutations responsible for KS led to the identification of signaling pathways involved in these processes, but the mutations so far identified account for only 30–40% of cases of KS. We attempted t...

Background: Pasireotide is a second line treatment for acromegaly. Besides the growth hormone (GH) lowering efficacy, clinical use is limited by side effects on glycemic control. The aim of this study was to evaluate longitudinal changes in beta-cell function and insulin sensitivity induced by pasireotide therapy in patients with acromegaly.Methods: We performed a retrospective study in 33 patients. Efficacy (GH and IGF-I concentrations; tumor size) and ...

Bone morphogenetic proteins (BMPs) exhibit broad spectrum of biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. BMPs are members of the transforming growth factor-β (TGF-β) family that bind to type II and type I serine-threonine kinase receptors, and transduce signals through Smad and non-Smad signalling pathways. BMPs together with other intraovarian growth factors are intimately involved in re...

Context: CHH/KS is a major cause of pubertal and bone maturation delay due to sex steroids deficiency. FH and TH have not been evaluated in large series of CHH/KS patients. Analysis of auxometric measures in patients’ siblings has never been performed.Patients and methods: We selected 216 (164/52 men/women; 112/104 KS/normosmic CHH) with available auxometric measures. Sibling stature was available in a subgroup of 162 patients. Difference between th...

Background: Cabergoline (CAB) is the most effective dopamine agonist (DA) used for the treatment of macroprolactinoma. Few data on the dose of CAB necessary for achieving and maintaining normal prolactin (PRL) levels are available. We aimed to study these parameters in a large series of patients with macroprolactinomasMethods: We retrospectively analysed the clinical, biochemical and imaging features at diagnosis and the treatment response to CAB (dose n...

Introduction: Testicular morphology and immunohistochemistry have never been reported in genetically documented adult patients with 5α-reductase type 2 deficiency (5α-R2 deficiency).Case report: We describe the testicular histopathology of a 17-year-old XY female with primary amenorrhea, failure of pubertal breast development, virilization, clitoromegaly, and bilateral cryptorchidism (testes located in the inguinal canals). The diagnosis of 5&#...

Context: Insulin-like peptide three (INSL3) is a testicular hormone, secreted by Leydig cells, during fetal life, in newborns, and after puberty. These 3 phases of testicular activation are impaired in CHH.Objective: To evaluate in a single center circulating INSL3 in a significant series of men with CHH in order to asses the consequences of pre- and postnatal gonadotropin deficiency, to specify the INSL3 regulation by gonadotropins and to evaluate the p...

Hypothesis: Exogenous kisspeptin-10 (Kp10) enhances pulsatile LH. Research strategy: A first-in-man dosing study of kp10 was first performed. Healthy volunteers and hypogonadal patients were subsequently infused with kp10. Dose titration study Rapid increases in LH with clear dose-dependency (P<0.0001) were observed in healthy men (n=6), with the 0.3 and 1 µg/kg doses being maximally stimulatory (P<0.01). Effect of sex-steroid milieu: LH respo...

Context: Mitotane due to its adrenolytic action is highly effective in long-term management of ACTH-dependent Cushing’s syndrome (CS). However, the slow onset of its anticortisolic effect makes its use problematic in severe CS, when very rapid therapeutic response is required. Association with metyrapone and ketoconazole, rapidly acting steroidogenesis inhibitors, could warrant CS control while waiting for the full efficiency of mitotane and thus avoid urgently performed ...