[Contribution of clinical, biological mini-puberty and genetic analysis in 57 46,XY DSD: a monocentric retrospective cohort].

Introduction: Differences of sex development (DSD) is a group of rare congenital conditions defined by chromosomal, gonadal and/or phenotypic discordance or atypical sex. The mini-puberty, corresponding to the transient postnatal activation of the hypothalamic-pituitary-gonadal axis, is an important diagnosis window in the clinical workup of infants with DSD. First objective to compare clinical data as well as hormone levels during minipuberty between patients with and without a genetic diagnose.

Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study.

Objective: To determine the prevalence of genetic and endocrine abnormalities and to assess fetal, neonatal and surgical outcomes in cases of hypospadias associated with fetal growth restriction.

Method: A multicentric retrospective study was conducted across five prenatal diagnosis centers in Paris. The cohort encompassed all fetuses diagnosed with the combination of fetal growth restriction < 10th percentile (FGR) and hypospadias from 2013 to 2021.

Paradigm shift in France in the medical care of children with genital development variations: Medical care for children with genital development variations in France.

In 2021, for the first time, a legal framework organizing the care of children with a variation in genital development (VGD), sometimes referred to as "intersex children" or "children with differences in sex development" (DSD), was introduced in France (article L. 2131-6 of the Code of Public Health). It should be immediately apparent that the chosen term, "variation" rather than "anomalies" or "disorders" - which was previously used in the medical world - reflects a political will to renew both the way of thinking and the medical practices in this field.

The role of pre- and postnatal investigations in suspected isolated hypospadias.

Introduction: Prenatal investigations are usually performed to diagnose severe or associated forms of hypospadias. However, the value of this workup and the correlation with the postnatal diagnosis and follow-up have not been studied in the literature. The aims of the study were to describe postnatal outcomes.

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

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 study is to investigate QOL in a large European cohort of men with KS.

Design: Cross-sectional multicentre study.

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

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-puberty during the first months of life. The aim of this study was to compare the clinical and biological efficacy of two treatment modalities of gonadotropins administration during mini-puberty in CHH neonates.

Hydrogen Peroxide Vapor Decontamination of Hazard Group 3 Bacteria and Viruses in a Biosafety Level 3 Laboratory.

Aim: This study aimed to validate the efficacy of hydrogen peroxide vapor (HPV) decontamination technology set up in a biosafety level 3 (BSL-3) laboratory on surrogates and hazard group 3 (HG3) agents.

Methods And Results: The HPV decontamination system (Bioquell) was assessed with both qualitative and quantitative methods on (1) spore surrogates (, , and ) in the BSL-3 laboratory and in the material airlock and on (2) HG3 agents ( SARS-CoV-2, Venezuelan equine encephalitis virus [VEE], and Vaccinia virus) in the BSL-3 laboratory. Other HG3 bacteria likely to be handled in the BSL-3 laboratory (, , , and ) were excluded from the HPV decontamination assays as preliminary viability tests demonstrated the total inactivation of these agents after 48 h drying on different materials.

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

Congenital hypogonadotropic hypogonadism (CHH) is a group of rare diseases characterized by inadequate secretion of the gonadotropins LH (luteinizing hormone) and FSH (follicle stimulating hormone) during the physiological activation periods of the gonadotropic axis. The disease? (anomaly) is present from fetal life and usually persists throughout life. Clinically, hypogonadotropic hypogonadism is associated with neonatal clinical signs (micropenis, cryptorchidism in boys in about half of the cases).

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

Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.

Design And Methods: A questionnaire was designed and distributed, including 17 questions collecting quantitative and qualitative data. Thirty-six medical centres from 14 European countries responded and 30 out of 36 centres were reference centres of the European Reference Network on Rare Endocrine Conditions, EndoERN.

The Year in Growth and Short Stature.

The papers and communications selected here, published in 2020-2021, report major advances in pathophysiology, diagnostics, treatment and patient care in the fields of growth hormones and disorders. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS.

Impact of intra-uterine life on future health.

Since the emergence of the concept of developmental origins of health and disease (DOHaD), suggested by Barker in the 1980s, numerous epidemiological studies in humans have confirmed the relationship between maternal obesity during pregnancy and the risk of offspring developing various chronic adult illnesses. These effects of intrauterine life are independent of inheritance of disease susceptibility genes and/or socio-economic factors. Regarding potential mechanisms, recent data from animal models suggests a role of insulin resistance early in development.

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.

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-Hôpitaux de Paris" (AP-HP), to demonstrate its suitability for high-throughput sequencing (HTS) data analysis in a clinical laboratory setting.

Methods: Our Galaxy instance has been running since July 2015 and is used daily to study inherited diseases, cancer, and microbiology.

Determinants of Final Height in Patients Born Small for Gestational Age Treated with Recombinant Growth Hormone.

Introduction: About 8% of children born small for gestational age (SGA) do not reach a final height within the normal range. Recombinant human growth hormone (rhGH) has been shown to be effective in increasing the final height in children born SGA. Our objective was to identify predictive factors of final height in children born SGA treated with rhGH.

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

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 demonstrated in women with CAH, but data on men with CAH are scarce. We hypothesized that disease severity and poor treatment control are inversely associated with QoL.

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

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 control puberty onset has expanded, particularly in the context of molecular interactions. Along with these advances, the knowledge of pubertal physiology and pathophysiology has also increased.

Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE).

Background: Surgery is performed in many individuals with disorders/differences of sex development (DSD). Irreversibility of some surgical procedures, lack of information about the procedures, and lack of follow-up care for physical and psychological outcomes, lead to wish for more knowledge from both surgeons and patients. After the consensus conference in 2006, multidisciplinary care is provided to a higher degree with psychological support and more restricted surgical procedures.