Unité Génétique du développement humain

Domaines scientifiques déclarés au RNSR

Mots-clés des publications HAL repérées

Projets ANR

• Analyse intégrée du rôle du facteur de transcription SF-1 / NR5A1 et de ses gènes cibles dépendants du dosage dans la fonction gonadique et les troubles du développement sexuel (DSD) · 2020

Publications HAL récentes repérées

• Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism · 2025

  Résumé de la publication : Abstract Context Constitutional delay of puberty (CDP) is highly heritable, but the genetic basis for CDP is largely unknown. Idiopathic hypogonadotropic hypogonadism (IHH) can be caused by rare genetic variants, but in about half of cases, no rare-variant cause is found. Objective…

• Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population · 2025

  Résumé de la publication : Objectives Differences of sex development (DSD) refer to various congenital conditions affecting the urogenital and hormonal systems. Accurate diagnosis and personalized management are crucial for supporting patients through complex decisions, such as those related to gender identity. Methods This study represents the…

• Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a SEMA3E Loss-of-Function Variant · 2025

  Résumé de la publication : Introduction: SEMA3E is a secreted class 3 semaphorin that, in mice, plays roles in neuronal guidance, cardiovascular morphogenesis, angiogenesis, and vascular homeostasis. Adult male mice lacking SEMA3E exhibit reduced testicular size compared to wild-type littermates, indicating a potential role in reproductive function.…

• Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX · 2025

  Résumé de la publication : Purpose Primary ovarian insufficiency (POI) is characterized by the loss of normal ovarian function and depletion of the ovarian reserve before the age of 40. Approximately 4–30% of reported POI cases are familial, indicating a genetic cause. The Newborn Ovary Homeobox (NOBOX)…

• Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement · 2024

  Résumé de la publication : Background: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care.…