Article
Clinical presentation of congenital hypogonadotropic hypogonadism in males with delayed puberty according to genetic etiology: a systematic review and meta-analysis after reclassification of gene variants.
Human reproduction (Oxford, England) - 1 May 2025
Castro Sebastián, Brunello Franco G, Sansó Gabriela, Izquierdo Agustín, Zaiat Jonathan, Urrutia Mariela, Martí Marcelo, Rey Rodolfo A, Tellechea Mariana L, Grinspon Romina P
Abstract excerpt
STUDY QUESTION: Which phenotypes can be confidently linked to a genetic etiology in males with congenital hypogonadotropic hypogonadism (CHH) resulting in absent or arrested puberty? SUMMARY ANSWER: In this systematic review and reclassification of the disease-causing potential of gene variants using the recommendations of the American College of Medical Genetics and Genomics (ACMG) and the Association for...
Read the complete abstract on PubMedTopics
- Humans
- Male
- Hypogonadism
- Puberty, Delayed
- Phenotype