3 results match your criteria: "V.I. Razumovskiy Saratov State Medical University.[Affiliation]"
PLoS One
March 2022
Clinical research department, JSC BIOCAD, Saint Petersburg, Russia.
Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in patients with 46,XY partial gonadal dysgenesis and underandrogenization but normal adrenal function.
View Article and Find Full Text PDFBackground: Cryptorchidism is associated with the risk of infertility and can be a symptom of congenital sexual maldevelopment.
Aim: To assess the functional status of the pituitary gland and sexual glands in boys aged 16 months with bilateral inguinal cryptorchidism and to reveal the congenital sexual maldevelopment during minipuberty.
Methods: Twenty-one boys aged 16 months (the minipuberty period) with isolated bilateral inguinal cryptorchidism and 40 healthy boys aged 23 months (the control group) were examined.