TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.

Young, Jacques

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans. [electronic resource] - The Journal of clinical endocrinology and metabolism May 2010 - 2287-95 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1945-7197

10.1210/jc.2009-2600 doi


Adult
Amenorrhea--genetics
Amino Acid Substitution
Breast--growth & development
Consanguinity
Female
Follicle Stimulating Hormone--blood
Gene Deletion
Homozygote
Humans
Hypogonadism--genetics
Introns--genetics
Luteinizing Hormone--blood
Male
Mutation, Missense
Neurokinin B--genetics
Pedigree
Penis--abnormalities
Receptors, Neurokinin-3--genetics
Testosterone--blood