Endocrine Abstracts

Introduction: Partial androgen insensitivity syndrome is a disorder of sexual development, distinct from complete androgen insensitivity syndrome. It is characterized by the presence of abnormal genital development in an individual with a 46, XY karyotype, with normally developed testes and a partial response to androgens at normal levels for age. It is an autosomal recessive X-linked disorder related to molecular abnormalities of the androgen receptor gene.

Case report: We report the case of an 18-year-old patient with a history of hypospadias operated in childhood, who consulted for bilateral gynecomastia. The clinical examination revealed a 3.5 cm Tanner P5 micropenis with absence of facial and axillary hair. His karyotype was 46, XY. Biologically: testosteronemia : 18.84 ng/ml, FSH was normal and LH : 15.6 mIU/ml with a Testosterone/Dehydroepiandrosterone (DHT) ratio of 6. The diagnosis of partial androgen insensitivity was therefore retained. Androstanolone (Andractim* gel) was used for 6 months with therapeutic failure. The patient was referred to plastic surgery for surgical management of his gynecomastia.

Discussion and conclusion: Partial androgen insensitivity is most often diagnosed in a newborn with atypical genital development (hypospadias, cryptorchidism, micropenis, or even very feminine phenotype with clitoral hypertrophy). The diagnosis will be evoked more rarely in front of an isolated micropenis or an isolated gynecomastia as in the case of our patient, or pubertal virilization in a young girl or fertility disorders in a man. It varies according to the degree of insensitivity of the genital tract to androgens.

References: Lachiri B, Hakimi I, Boudhas A. Le syndrome d’insensibilité complète aux androgènes: à propos de deux cas et revue de la literature [Complete androgen insensitivity syndrome: report of two cases and review of literature]. Pan Afr Med J. 2015;20:400. Published 2015 Apr 23. C. Bouvattier, Androgen resistance, Annals of Endocrinology, Volume 79, Issue 4, 2018, Pages 196-197.