Article
46,XX pure gonadal dysgenesis with growth hormone deficiency and impaired 3 beta-hydroxysteroid dehydrogenase activity.
American journal of medical genetics - 1 Jan 1992
Sills I N, Rapaport R, Skuza K A, Horlick M N
Abstract excerpt
Patients with 46,XX pure gonadal dysgenesis generally are of normal stature and have less than usual amounts of pubic and axillary hair. We report on a patient who presented at age 11.9 years with short stature, absence of breast development, and excessive pubic hair. Her karyotype in leukocytes, fibroblasts, and streak gonad was 46,XX. The patient was diagnosed as having growth hormone deficiency. Elevated ACTH...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adolescent
- Adrenocorticotropic Hormone
- Female
- Gonadal Dysgenesis
- Growth Disorders
- Growth Hormone
- Humans
- Phenotype
- Virilism