Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.

ABSTRACT:

Study question

What is the contribution of genetic defects in Portuguese patients with congenital hypogonadotropic hypogonadism (CHH)?

Summary answer

Approximately one-third of patients with CHH were found to have a genetic cause for their disorder, with causal pathogenic and likely pathogenic germline variants distributed among 10 different genes; cases of oligogenic inheritance were also included.

What is known already

CHH is a rare and genetically heterogeneous disorder characterized by deficient production, secretion, or action of GnRH, LH, and FSH, resulting in delayed or absent puberty, and infertility.

Study design size duration

Genetic screening was performed on a cohort of 81 Portuguese patients with CHH (36 with Kallmann syndrome and 45 with normosmic

SUBMITTER: Carrico JN 

PROVIDER: S-EPMC11415827 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature