Searchable abstracts of presentations at key conferences in endocrinology

ea0063oc10.2 | Adrenal 2 | ECE2019

Glucocorticoid resistance patients exhibit defective cortisol metabolism, responsible for functional hypermineralocorticism

Vitellius Geraldine , Delemer Brigitte , Chabre Olivier , Caron Philippe , Pussard Eric , Bouligand Jerome , Trabado Severine , Lombes Marc

Glucocorticoid resistance syndrome, a rare genetic disease, is often associated with glucocorticoid receptor (GR) loss-of-function mutations. Six patients carrying heterozygous mutations of NR3C1 gene encoding GR, either missense R477S, Q501H, L672P or non-sense R469X, R491X, Y660X mutations were studied. Surprisingly, NR3C1 mutation carriers presented with low kalemia, low plasma renin and aldosterone levels associated or not with arterial hypertension, cons...

ea0063gp145 | Interdisciplinary Endocrinology 1 | ECE2019

Final (FH) and target height (TH) in male and female patients with congenital hypogonadotropic hypogonadism (CHH)/Kallmann syndrome (KS): a monocentric study of 216 patients

Maione Luigi , Pala Giovanna , Trabado Severine , Papadakis Georgios , Maghnie Mohamad , Bouvattier Claire , Young Jacques

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 patientsÂ’ 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...

ea0032oc5.6 | Reproduction | ECE2013

INSL3 in 268 male patients with congenital hypogonadotropic hypogonadism (CHH): effects of different modalities of hormonal treatment

Trabado Severine , Maione Luigi , Sarfati Julie , Salenave Sylvie , Chanson Philippe , Brailly-Tabard Sylvie , Young Jacques

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...

ea0022oc4.4 | Adrenals | ECE2010

Combined anticortisolic therapy by metyrapone, ketoconazole and mitotane: an alternative to adrenalectomy in severe Cushing’s syndrome

Kamenicky Peter , Droumaguet Celine , Baudin Eric , Salenave Sylvie , Trabado Severine , Cazabat Laure , Chanson Philippe , Young Jacques

Context: Mitotane due to its adrenolytic action is highly effective in long-term management of ACTH-dependent CushingÂ’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 ...

ea0063p308 | Reproductive Endocrinology 1 | ECE2019

Reproductive phenotype in 265 men with congenital hypogonadotropic hypogonadism and 531 men with acquired hypogonadotropic hypogonadism: a monocentric comparative study

Maione Luigi , Sarfati Julie , Bernard Valerie , Gonfroy Celine , Jublanc Christel , Salenave Sylvie , Trabado Severine , Chanson Philippe , Young Jacques

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,...

ea0059p195 | Reproduction | SFEBES2018

Exhaustive characterization of placental production of progesterone in vitro

Fraichard Camille , Hebert-Schuster Marylise , Garnier Anthony , Sibiude Jeanne , Bouzerara Amina , Fournier Thierry , Trabado Severine , Guibourdenche Jean

Placenta is an endocrine organ, secreting steroids (progesterone [P4], estrogens) and hCG, thanks to villous tissu (cytotrophoblasts [VCT] and syncytiotrophoblast [ST]). P4 is required for implantation and maintenance of pregnancy. P4 is synthetized from maternal cholesterol thanks to mitochondrial transporter MLN64 and P450SCC and HSD3B1 enzymes. We aimed to characterize P4 production in human placenta during VCTs differentiation into ST in vitro. VCTs isolated from ...

ea0022oc4.3 | Adrenals | ECE2010

Novel mutations in the glucocorticoid receptor gene: from familial bilateral adrenal hyperplasia to glucocorticoid receptor haploinsufficiency

Young Jacques , Trabado Severine , Bouligand Jerome , Amazit Larbi , Viengchareun Say , Guiochon-Mantel Anne , Delemer Brigitte , Lombes Marc

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...

ea0022p530 | Male reproduction | ECE2010

Congenital hypogonadotropic hypogonadism in men as a cause of estradiol deficiency

Trabado Severine , Maione Luigi , Salenave Sylvie , Baron Stephanie , Galland Francoise , Sinisi Antonio-Agostino , Brailly-Tabard Sylvie , Young Jacques

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...

ea0063gp150 | Interdisciplinary Endocrinology 1 | ECE2019

Increased prevalence of overweight and obesity and its clinical predictors in children affected by x-linked hypophosphatemia

Zhukouskaya Volha V. , Rothenbuhler Anya , Colao Annamaria , Di Somma Carolina , Kamenicky Peter , Trabado Severine , Prie Dominique , Audrain Christelle , Barosi Anna , Kyheng Christele , Lambert Anne-Sophie , Linglart Agnes

Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate level. Scientific evidence points to link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.Patients/methods: We selected 172 XLH-children of 5-20 years (113 girls/59 boys). Anthropometric paramet...

ea0049gp7 | Adrenal 1 | ECE2017

Identification of a new glucocorticoid receptor mutation underscores the substantial prevalence of genetic NR3C1 alterations in adrenal hyperplasia: the French National Research Program MUTA-GR

Vitellius Geraldine , Delemer Brigitte , Caron Philippe , Bennet Antoine , Bouligand Jerome , Guiochon-Mantel Anne , Viengchareun Say , Dani Christian , Trabado Severine , Lombes Marc

Primary generalized glucocorticoid resistance is characterized by glucocorticoid excess without any Cushing syndrome. Patients exhibit variable clinical presentation including arterial hypertension, hirsutism or adrenal hyperplasia. Although glucocorticoid resistance has been associated with glucocorticoid receptor (GR) mutations (encoded by NR3C1 gene), only 23 mutations have been reported so far. We have conducted a French National Research Program, referred to as M...