Background: The clinical diagnosis of partial androgen insensitivity syndrome (PAIS) should be systematically considered for all 46,XY newborns/infants with undervirilisation contrasting with normal/elevated plasma testosterone levels. Confirmation of PAIS is based on the identification of an androgen receptor (AR) gene mutation.
Aim: This work was undertaken to determine whether the minor forms of undervirilisation such as isolated hypospadias, isolated micropenis, or isolated persistent pubertal gynecomastia (PPG) should be considered as true cases of PAIS, i.e., the result of an AR gene mutation.
Methods: AR gene sequencing was performed on the DNAs of 292 infants with isolated hypospadias, 52 infants with isolated micropenis, and 26 adolescents with isolated PPG.
Results: In the cohort of 292 infants with isolated hypospadis, an AR gene mutation was observed in nine cases (3%). In the group of 52 infants with isolated micropenis, AR gene sequencing revealed four mutations (7.7%). In the group of 26 adolescents with isolated PPG, we identified three AR gene mutations (11.5%).
Conclusions: Isolated hypospadias, micropenis or PPG may be the only clinical manifestation of PAIS. The systematic search for an AR gene mutation in this common clinical situation may be criticised in todays difficult financial context. Yet identifying an AR gene mutation permits an aetiological diagnosis, fuller discussion of the prognosis, a foundation for choosing the therapeutic approach and not least the offer of genetic counselling for siblings.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology