Three cases of congenital growth hormone deficiency with micropenis and hypospadias: what does growth hormone have to do with it?
This paper reports 3 cases of congenital GH deficiency with male pseudohermaphroditism. All 3 showed a normal male karyotype, hypospadias of different degrees, and, for 2 of them, micropenis. No müllerian structure was individualized since pelvic ultrasound and genitography were normal. Patient 1 was born with multiple anomalies and patient 3 showed partial agenesia of the corpus callosum. Only 1 patient showed complete anterior pituitary deficiency. Gonadotropin defects were not investigated. We postulate that GH might play a role in early testosterone stimulation, and thus in male sexual differentiation.
Urzola
A
A
Department of Pediatric Endocrinology and Diabetology, Robert Debré Hospital, Paris, France.
Leger
J
J
Czernichow
P
P
D005317:Fetal Growth Retardation / Q000209:etiology / Q000473:pathology; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007021:Hypospadias / Q000188:drug therapy / Q000209:etiology* / Q000601:surgery; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008297:Male; D010409:Penile Diseases / Q000151:congenital* / Q000188:drug therapy / Q000601:surgery; D010413:Penis / Q000254:growth & development* / Q000601:surgery; D010903:Pituitary Gland, Anterior / Q000254:growth & development; D013739:Testosterone / Q000627:therapeutic use
D019382:Human Growth Hormone; D013739:Testosterone