A 46,XY (genetically "male") woman with complete insensitivity to LH, resulting in fully feminized genitalia at birth. Puberty appears to have commenced, likely due to estrogen replacement therapy.<unk>  is caused by genetic mutations in LHCGR, a gene which encodes the LH/hCG receptor. LH normally acts through the LH/hCG receptor to stimulate the growth of<unk> <unk> s in the testicles and the production of androgens such as testosterone and dihydrotestosterone (DHT) by these<unk> s. In<unk>  however, there is a reduced capacity for the LH/hCG receptor to respond to LH. This results in hypoplasia or absence of<unk> <unk> s, testicular atrophy, and lower than normal androgen levels. In the most severe form of the condition in which there is a complete lack of response of the<unk> <unk> s to LH, androgen production by the testicles is virtually negligible and secondary sexual characteristics entirely fail to develop at puberty.
Leydig cell hypoplasia
Müllerian agenesis
Androgen-induced hermaphroditism
Blighted ovum
Salivary gland hypoplasia
Salivary gland aplasia
Gonadotropin-releasing hormone insensitivity
Thyroid hormone resistance