46XY siblings with inadequate virilization and CNS deficiency.
Familial expression of inadequate virilization of 46XY siblings is often reported as an isolated anomaly. We recently evaluated two families with 2 siblings who had a 46XY karyotype, ambiguous genitalia or micropenis, facial anomalies and mental retardation. There is no evidence of gonadotropin deficiency, defects of steroidogenesis, or androgen insensitivity. While there was a testosterone response to human chorionic gonadotropin stimulation in all 3 tested, gonadotropin levels were elevated in 2 of the infants suggestive of faulty seminiferous tubules, 1 of whom later had elevated luteinizing hormone levels. These kindreds may represent a new syndrome with either an X-linked recessive or sex-limited autosomal dominant form of inheritance, with partial testicular failure, multiple congenital anomalies, and mental retardation.
Hoffman
R P
RP
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pa.
Steele
M W
MW
Lee
P A
PA
Brown
T R
TR
Wenger
S L
SL
Skiba
P L
PL
D002478:Cells, Cultured; D002490:Central Nervous System / Q000002:abnormalities*; D012734:Disorders of Sex Development / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011944:Receptors, Androgen / Q000378:metabolism; D012867:Skin / Q000378:metabolism
D011944:Receptors, Androgen