Explanipedia

Inhibin B and AMH for Diagnosis of Hypogonadotropic Hypogonadism in Boys Under 1 Year of Age: A Case-control Study Open

Tifenn Gueguen, Lætitia Martinerie, Sarah Castets, Vanessa Menut, Carine Villanueva , et al. · 2025

Context Congenital hypogonadotropic hypogonadism (CHH) in infant boys is a rare disorder that can manifest as micropenis and/or cryptorchidism. Mini-puberty is considered a window of opportunity for CHH diagnosis and treatment. The lack of…

Early adolescence assessment of eleven boys treated with continuous subcutaneous infusion of recombinant LH and FSH during infancy Open

Anne-Sophie Lambert, Trouvin Marie-Agathe, Khadidja Fouatih, Adrien Lecoeuvre, Cécile Thomas‐Teinturier , et al. · 2025

We previously observed that continuous subcutaneous gonadotropin infusion (CSGI) in infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty. Objective To describe the early adolescence outcome of boys treated duri…

8577 Gonadal function throughout life in XX and XY patients with a germline WT1 variant - lessons from a cohort of 80 patients Open

Morgane Carré Lecoindre, Delphine Mallet, Claire Dossier, Mathilde Glénisson, Mathilde Grapin , et al. · 2024

Disclosure: M. Carré Lecoindre: None. D. Mallet: None. C. Dossier: None. M. Glenisson: None. M. Grapin: None. A. Brac de la Perriere: None. Z. Chakhtoura: None. C. Bouvattier: None. M. Houang: None. C. Pienkowski: None. N. Zaegel: None. R.…

8577 Gonadal function throughout life in XX and XY patients with a germline WT1 variant - lessons from a cohort of 80 patients Open

Morgane Carré Lecoindre, Delphine Mallet, Claire Dossier, Mathilde Glénisson, Mathilde Grapin , et al. · 2024

Disclosure: M. Carré Lecoindre: None. D. Mallet: None. C. Dossier: None. M. Glenisson: None. M. Grapin: None. A. Brac de la Perriere: None. Z. Chakhtoura: None. C. Bouvattier: None. M. Houang: None. C. Pienkowski: None. N. Zaegel: None. R.…

Quality of life in men with Klinefelter syndrome: a multicentre study Open

Sebastian Franik, Kathrin Fleischer, Barbara Kortmann, Nike Stikkelbroeck, Kathleen D’Hauwers , et al. · 2023

Background Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this stud…

Gonadotropin administration to mimic mini-puberty in hypogonadotropic males: pump or injections? Open

Tristan Avril, Quentin Hennocq, Anne-Sophie Lambert, Juliane Léger, Dominique Simon , et al. · 2023

Objective Newborns with congenital hypogonadotropic hypogonadism (CHH) have an impaired postnatal activation of the gonadotropic axis. Substitutive therapy with recombinant gonadotropins can be proposed to mimic physiological male mini-pub…

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France Open

Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier , et al. · 2023

Objectives To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available. Met…

The impact of Klinefelter syndrome on socioeconomic status: a multicenter study Open

Sebastian Franik, Kathrin Fleischer, Barbara Kortmann, Nike Stikkelbroeck, Kathleen D’Hauwers , et al. · 2022

Klinefelter syndrome (KS) is associated with an increased risk of neuropsychological morbidity, such as learning disabilities, which may have a significant impact on socioeconomic status (SES). The objective of this study was to investigat…

Les enfants présentant une variation du développement génital Open

Claire Bouvattier, Lætitia Martinerie · 2022

Les variations du développement génital sont des situations cliniques rares où l’anatomie des organes génitaux est inhabituelle, à cause d’une combinaison rare des gonosomes (chromosomes X et/ou Y), d’une variation du développement des tes…

Puberty induction with recombinant gonadotropin: What impact on future fertility? Open

Anne-Sophie Lambert, Claire Bouvattier · 2022

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) Open

Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara‐Boustani, Muriel Houang , et al. · 2022

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe Open

H. Nowotny, Uta Neumann, Véronique Tardy-Guidollet, S. Faisal Ahmed, Federico Baronio , et al. · 2022

Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.\n\nDesign and methods: A questionnaire was designed and…

Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory Open

Kenneth Chappell, Bruno Francou, Christophe Habib, Thomas Huby, Marco Leoni , et al. · 2021

Background To date, the usage of Galaxy, an open-source bioinformatics platform, has been reported primarily in research. We report 5 years’ experience (2015 to 2020) with Galaxy in our hospital, as part of the “Assistance Publique–Hôpitau…

Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach Open

Luigi Maione, Claire Bouvattier, Ursula B. Kaiser · 2021

Central precocious puberty (CPP) results from early activation of the hypothalamic‐pituitary‐gonadal (HPG) axis. The current state of knowledge of the complex neural network acting at the level of the hypothalamus and the GnRH neuron to co…

Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Open

Myrthe J. M. Verhees, Manon Engels, Paul N. Span, Fred C.G.J. Sweep, Antonius E. van Herwaarden , et al. · 2021

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroid biosynthesis, leading to hypocortisolism, hypoaldosteronism, and hyperandrogenism. Impaired quality of life (QoL) has been demon…

<i>SRY</i>‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis Open

Sophie Lambert, Matthieu Peycelon, Dinane Samara‐Boustani, Capucine Hyon, Laurence Dumeige , et al. · 2020

Objective SRY ‐negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very f…

GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty Open

Héléna Mosbah, Claire Bouvattier, Luigi Maione, Séverine Trabado, Gianpaolo De Filippo , et al. · 2020

STUDY QUESTION Are GnRH tests and serum inhibin B levels sufficiently discriminating to distinguish transient constitutional delay of growth and puberty (CDGP) from congenital hypogonadotropic hypogonadism (CHH) that affects reproductive h…

Référentiel de la Société francophone du diabète (SFD) : vaccination chez la personne diabétique Open

Laurence Dumeige, Livie Chatelais, Claire Bouvattier, Marc de Kerdanet, Capucine Hyon , et al. · 2020

Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge Open

Lucie Tosca, Jacques C. Giltay, Claire Bouvattier, Aart J. Klijn, Jérôme Bouligand , et al. · 2020

Endocrine and Cytogenetic Profile of Variations in Genital Development: Series of 9 Cases at the Mali Hospital Open

Mohamed Lamine Mariko, Djénéba Sylla Sow, D Traoré, Claire Bouvattier, Moctar Bah , et al. · 2020

We carried out a retrospective and descriptive study in the Medicine and Endocrinology service of the Mali Hospital from January 2015 to December 2018. Nine cases of anomalies in sexual differentiation were referred for pubertal delay, gro…

Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France Open

M. Hermann, Babak Khoshnood, Olivia Anselem, Claire Bouvattier, Aurélie Coussement , et al. · 2019

Congenital hypogonadotropic hypogonadism/Kallmann syndrome is associated with statural gain in both men and women: a monocentric study Open

Luigi Maione, Giovanna Pala, Claire Bouvattier, Séverine Trabado, Georgios Papadakis , et al. · 2019

Context Congenital hypogonadotropic hypogonadism/Kallmann syndrome (CHH/KS) is a rare condition characterized by gonadotropin deficiency and pubertal failure. Adult height (AH) in patients with CHH/KS has not been well studied. Objective T…

The impact of klinefelter syndrome on quality of life – a multicentre study Open

Sebastian Franik, Kathrin Fleischer, Barbara Kortmann, Kathleen D’Hauwers, Joanna IntHout , et al. · 2019

Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries Open

A. de Vries, Robert Roehle, Louise Marshall, Louise Frisén, Tim C. van de Grift , et al. · 2019

Objective The aim of the study was to evaluate psychiatric symptoms among 1022 persons with various disorders of sex development (DSDs). Methods The study was a European multicenter cross-sectional clinical evaluation in six countries. The…

Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study Open

Baudewijntje P.C. Kreukels, Peggy T. Cohen–Kettenis, Robert Roehle, Tim C. van de Grift, Jolanta Słowikowska‐Hilczer , et al. · 2019

For various reasons, sexuality of individuals with differences/disorders of sex development (DSD) may be affected. The aim of the study was to describe sexual activity, satisfaction with sex life, satisfaction with genital function, and se…

Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency Open

Katharina Gehrmann, Manon Engels, Elena Bennecke, Claire Bouvattier, Henrik Falhammar , et al. · 2019

Purpose Although sexuality has been reported to be impaired in females with congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency, sexuality in males with CAH so far has remained largely unconsidered. Patients One o…

MON-244 GnRH Test Does Not Efficiently Discriminate Congenital Isolated Hypogonadotropic Hypogonadism from Constitutional Delay of Growth and Puberty in Males Open

Héléna Mosbah, Claire Bouvattier, Luigi Maione, Séverine Trabado, De Philippo Gianpaolo , et al. · 2019

Context: Delayed puberty can be due to either constitutional delay of growth and puberty (CDGP) or congenital hypogonadotropic hypogonadism (CHH). Differentiating between the two conditions either clinically or using current hormonal testi…

SUN-017 Impact of Steroid Precursors and Minor Metabolites Quantified by LC-MS-MS on Salt Wasting in 21-Hydroxylase Deficient Patients Open

S.T.M. Allard, Claire Bouvattier, Jérôme Fagart, Lætitia Martinerie, Say Viengchareun , et al. · 2019

Congenital adrenal hyperplasia (CAH), associated with 21-hydroxylase deficiency (21OHD), is a severe autosomic recessive disease. It may lead to life-threatening adrenal insufficiency with cortisol and aldosterone secretion defect, requiri…

Functional Characterization of Glucocorticoid Receptor Variants Is Required to Avoid Misinterpretation of NGS Data Open

Loïc Foussier, Géraldine Vitellius, Jérôme Bouligand, Larbi Amazit, Claire Bouvattier , et al. · 2019

Recent advances in genetic analysis technologies such as next-generation sequencing (NGS) have considerably increased the incidental discovery of genetic abnormalities. Six heterozygous missense mutations of the human glucocorticoid recept…

Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE) Open

Ute Thyen, Till Ittermann, Steffen Fleßa, Holger Muehlan, Wiebke Birnbaum , et al. · 2018

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