Mode of inheritance in familial cases of primary gonadotropic deficiency.
The mode of inheritance of primary gonadotropic deficiency was studied in 38 children and adolescents. 92% of this population was male with high frequencies of undescended testes (80%) and micropenis (31%). Anosmia was present in 61% of the patients aged more than 5 years and was a frequent genetic marker in the families. Inheritance was matrilineal in 18, X-linked dominant or autosomal dominant in 6. In 13 cases, the transmission was patrilineal and evoked autosomal dominant inheritance. An autosomal recessive transmission was likely in 7 patients. The data agree with the suggestion of multiple modes of inheritance of congenital gonadotropic deficiency, and clearly show the wide range of expressivity of the disorder.
Chaussain
J L
JL
Hôpital Saint-Vincent-de-Paul, Paris, France.
Toublanc
J E
JE
Feingold
J
J
Naud
C
C
Vassal
J
J
Job
J C
JC
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006063:Chorionic Gonadotropin; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005799:Genes, Dominant; D007987:Gonadotropin-Releasing Hormone / Q000097:blood; D006062:Gonadotropins / Q000172:deficiency*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010375:Pedigree; D013577:Syndrome; D013739:Testosterone / Q000097:blood; D014960:X Chromosome
D006063:Chorionic Gonadotropin; D006062:Gonadotropins; D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone