Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations …

CI Gonçalves, J Carriço, M Bastos… - International Journal of …, 2022 - mdpi.com
The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts
androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or …

Applying single-cell analysis to gonadogenesis and DSDs (Disorders/Differences of Sex Development)

MA Estermann, CA Smith - International Journal of Molecular Sciences, 2020 - mdpi.com
The gonads are unique among the body's organs in having a developmental choice: testis
or ovary formation. Gonadal sex differentiation involves common progenitor cells that form …

Exploring the clinical implications of novel SRD5A2 variants in 46, XY disorders of sex development

Y Mao, JM Huang, YW Chen-Zhang, H Lin… - Asian Journal of …, 2024 - journals.lww.com
This study was conducted retrospectively on a cohort of 68 patients with steroid 5 α-
reductase 2 (SRD5A2) deficiency and 46, XY disorders of sex development (DSD). Whole …

[HTML][HTML] Disorders of Adrenal Glands and Sex Development in Children: Insights from the Tropics

N Raizada, PL Nonglait - 2023 - europepmc.org
The adrenal gland is essential for survival and its function is compartmentalized into specific
zones. Disorders of the adrenal gland can be classified as those affecting the adrenal cortex …