Endocrine Abstracts

Objective: To determine the outcome of pregnancy in hypopituitary women.Background: Rare situation, not studied enough: only two previous studies concerning 9 and 19 patients (Overton et Hall).Design: Multicentric, descriptive, prospective and retrospective study.Material and methods: Twenty-one pregnancies were registered in 14 hypopituitary women (defined as gonadotropic deficiency associated with at least ...

Context: Cervical ultrasound is a frequently used and an accessible operator-dependent tool, which contributes to the characterization of thyroid nodules and to the preoperative localization of pathological parathyroid glands. However, thyroid nodules may be confused with parathyroid lesions. There is no study directly comparing thyroid and parathyroid nodules on ultrasound.Objectives: 1) To describe the ultrasonographic characteristics of parathyroid le...

Introduction: The hypothalamic-pituitary-gonadal (HPG) axis is regulated by pulsatile GnRH secretion and its action on the anterior pituitary, leading to the synthesis and secretion of LH and FSH. KNDy neurons, expressing kisspeptin, neurokinin B and dynorphin A, are the GnRH/lH pulse generator and are key regulators of puberty and fertility. The HPG axis is active during prenatal and early postnatal life in humans and rodents, but then remains quiescent until puberty in both ...

Context: Hypogonadotropic hypogonadism (HH), defined by LH and FSH deficiencies, lead to impairment in testicular growth, testicular hormonal secretions and spermatogenesis. HH can have a prenatal (congenital HH, CHH) or post-natal (acquired HH, HHA) onset. Direct comparison of reproductive phenotypes (RP) between CHH and AHH has not been systematically performed in large series representative of these two populations.Patients and methods: 60 normal men,...

Background: In the 22-week LINC-2 study, osilodrostat (LCI699), a potent oral 11β-hydroxylase inhibitor, normalized urinary free cortisol (UFC) levels in 15 of 19 patients with Cushing’s disease (CD). The most common AEs were nausea, diarrhea, asthenia, and adrenal insufficiency (n=6 each). Here, we report the 31-month efficacy and safety results from LINC-2 extension.Methods: Patients receiving clinical benefit at week 22 could enter ...

Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding neurokinin B (NKB) and its receptor NK3R, respectively, were recently discovered in kindreds with non syndromic normosmic congenital hypogonadotropic hypogonadism (nCHH), thus identifying a fundamental role of this pathway in the human gonadotrope axis.We investigated the consequences on gonadotrope axis of TAC3 and TACR3 invalidations in adult patients ...

Glucocorticoid receptor (GR or NR3C1) is a ligand-dependent transcription factor that plays an essential role in differentiation, development, inflammatory responses and energy balance and is implicated in several human diseases. Eleven germinal GR mutations have been described so far, responsible for glucocorticoid resistance with variable clinical presentation.We report original heterozygous GR mutations in three independent patients, which have been i...

Context: Peritoneal carcinomatosis (PC) is a rare site of distant metastasis in patients with adrenocortical cancer (ACC). One preliminary study suggests an increase risk of PC after adrenalectomy through laparoscopic approach of ACC.Objective: The objective of the study was to search for risk factors of PC including surgical approach. This was a retrospective cohort study conducted in an institutional practice.Patients: Sixty-four...

Context: Congenital hypogonadotropic hypogonadism (CHH), is a rare disorder associated with severe testosterone deficiency and with impaired bone mineral mass (BMM) acquisition and osteoporosis. Estradiol (E2) play a major role in bone development and maintain in BMM in humans.Objective: To evaluate in detail the degree of E2 deficiency in adult men with CHH.Design and patients: Using a sensitive E2...

Objective: To determine the frequency of mutations of the gonadotropin-releasing hormone receptor (GnRHR) and of the G protein-coupled receptor 54 (GPR54) genes in normosmic idiopathic hypogonadotropic hypogonadism patients (IHH).Methods: In a retrospective study we analysed the GnRHR and the GPR54 genes of 327 IHH patients including 105 females (36.5%) and 183 males (63.5%). Among the index cases (288 siblings) 267 were sporadic form (92.7...