Background: Partial androgen insensitivity syndromes (PAIS) are rare 46,XY DSD (disorder of sex development).
Objective and hypotheses: Three families with PAIS (six patients) are reported, focusing on their phenotype and treatment depending on sex of rearing. Biological investigations and surgical management are described.
Method: Between 2009 and 2015 a consultation for uro-genital malformations in pediatric patients was set up in Yaoundé (Cameroon). Data on patients with PAIS were retrospectively reviewed.
Results: Six patients from three families were referred for genital anomalies. Mean age at the first consultation was 19 years [1425 years]. Gender assignment was attributed by parents in the neonatal period without any investigation (three males, three females). At presentation the patients had breast development, variable degree of genital masculinisation and palpable testes. All patients were 46,XY on lymphocyte karyotypes. Hormonal screening and subsequently hormonal therapy (hormonal substitution for girls) was done once the biomolecular diagnosis of PAIS with AR mutation was confirmed. All the patients requested surgery supporting of sex of rearing. Four out of six underwent genital surgery (two girls and two boys). The surgical treatment consisted of feminising genitoplasty or vaginal dilatation and orchidectomy for girls and mastectomy, masculinising genitoplasty and orchidopexy for boys.
Conclusion: The management of PAIS patients requires an experienced multidisciplinary team to allow a full clinical and biological assessment. Corrective surgery was performed using actual standards. There was no dysphoria and all patients regretted the late diagnosis and late surgical correction. The potential of sexuality and fertility for the boys need to be assessed.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology