Persistence of Müllerian remnants in complete androgen insensitivity syndrome.
One of the unusual findings in androgen insensitivity syndrome (AIS) is the persistence of Mullerian derivatives. Several hypotheses have been advanced to explain such persistence: the coincidental occurrence of mutations affecting the androgen receptor (AR) and the synthesis and/or action of anti-Müllerian hormone (AMH); the loss of AMH paracrine action due to early testicular descent; the exposure to drugs such as diethylstilbestrol. We describe a patient with complete AIS for whom surgical and laboratory findings rule out all these hypotheses. She has a missense mutation on the AR gene but no mutations were detected on the genes coding for AMH and AMH receptor. The gonads were found very close to the Mullerian structures (enough to exert a paracrine action), gonadal tissue stained positively for AMH, and yet Mullerian derivatives were present and well developed. These findings indicate the possibility of interactions between the androgen receptor and AMH action.
Damiani
D
D
Pediatric Endocrinology Unit, Instituto da Criança, Hospital das Clinicas, São Paulo University Medical School, Brazil. durvald@csf.com.br
Mascolli
M A
MA
Almeida
M J
MJ
Jaubert
F
F
Fellous
M
M
Dichtchekenian
V
V
Tobo
P R
PR
Moreira-Filho
C A
CA
Setian
N
N
D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics / Q000473:pathology*; D054304:Anti-Mullerian Hormone; D005260:Female; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000235:genetics; D006801:Humans; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities*; D020125:Mutation, Missense; D011944:Receptors, Androgen / Q000235:genetics*; D013735:Testicular Hormones / Q000235:genetics
D006023:Glycoproteins; D006131:Growth Inhibitors; D011944:Receptors, Androgen; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone