Article
Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia).
Hormone research - 1 Jan 1991
Müller J, Torsson A, Damkjaer Nielsen M, Petersen K E, Christoffersen J, Skakkebaek N E
Abstract excerpt
We have investigated gonadal development and growth in 4 individuals (3 with 46,XY and 1 with 46,XX karyotype) with P450scc deficiency. One patient died at 2 months of age from adrenal insufficiency, while the remaining 3 individuals were healthy and developed normally (age at follow-up: 18, 10 a...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Child
- Cholesterol Side-Chain Cleavage Enzyme
- Chorionic Gonadotropin
- Female
- Genitalia
- Growth
- Humans
- Infant
- Karyotyping
- Male
- Phenotype