Publications by authors named "Catarina Ines Goncalves"
Genetics of Growth Hormone Deficiency: Insights from a Cohort of 203 Patients.
J Clin Endocrinol Metab
June 2025
Context: Growth Hormone (GH) deficiency is a rare disorder characterized by severe short stature, which can result from genetic mutations affecting hypothalamic-pituitary development and function.
Objective: To determine the genetic basis of GH deficiency in a Portuguese cohort.
Design, Setting, Patients: Multicentre cohort of 203 GH-deficient patients (78 with Isolated GH Deficiency (IGHD) and 125 with Combined Pituitary Hormone Deficiency (CPHD)) were analysed.
Kallmann syndrome is a rare disorder characterized by hypogonadotropic hypogonadism and an impaired sense of smell (anosmia or hyposmia) caused by congenital defects in the development of the gonadotropin-releasing hormone (GnRH) and olfactory neurons. Mutations in several genes have been associated with Kallmann syndrome. However, genetic testing of this disorder often reveals variants of uncertain significance (VUS) that remain uninterpreted without experimental validation.
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- 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.
Article Synopsis
- Congenital hypogonadotropic hypogonadism (CHH) is a condition where individuals do not undergo normal puberty due to insufficient gonadotropin-releasing hormone (GnRH), often linked to genetic mutations.
- A study on 50 Portuguese patients found that 16% had rare mutations in the CHD7 gene, with five mutations being previously unreported.
- These findings suggest that CHD7 mutations are more common in CHH patients than mutations in other known CHH-related genes, highlighting the need to include CHD7 in genetic testing for CHH cases, even without CHARGE syndrome traits.