Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices.

ABSTRACT:

Background

PAIS exhibits a complex spectrum of phenotypes and pubertal outcomes. The paucity of reliable prognostic indicators can confound management decisions including sex-of-rearing. We assessed whether external masculinisation score (EMS) at birth or functional assays correlates with pubertal outcome in PAIS patients and whether the EMS is helpful in sex assignment.

Methods

We collected pubertal outcome data for 27 male-assigned PAIS patients, all with confirmed androgen receptor (AR) mutations, including two previously uncharacterized variants (I899F; Y916C). Patients were grouped as follows; EMS at birth <5 and ≥ 5 (EMS in normal males is 12; median EMS in PAIS is 4·7) and pubertal outcomes compared.

Findings

Only 6/9 patients (67%) with EMS <5 underwent sponta

SUBMITTER: Lek N 

PROVIDER: S-EPMC6197786 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature