Publications by authors named "Sofia Almeida Martins"
Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.
Josianne Nunes Carriço Catarina Inês Gonçalves Asma Al-Naama Najeeb Syed José Maria Aragüés João Martin Martins Raquel Gomes Martins Diana Martins Teresa Martins Sofia Almeida Martins
Hum Reprod Open
September 2024
Article Synopsis
- About one-third of Portuguese patients with congenital hypogonadotropic hypogonadism (CHH) have a genetic cause linked to 10 different genes, with a small percentage showing oligogenic inheritance.
- CHH leads to delayed puberty and infertility due to issues with hormones like GnRH, LH, and FSH.
- In a study involving 81 patients and 263 controls, genetic screening helped identify pathogenic variants, but many variants classified as uncertain complicate the understanding of the disease causes.