Background:46, XY disorder of sexual development (DSD) is a heterogeneous group of pathologies characterized by a wide spectrum of phenotypes and aetiologies. While advances in biochemical, hormonal tests and molecular genetics, the diagnosis still remains uncertain for most patients with 46, XY DSD.
Case Summary:A 17-year-old person, reared as female and later raised as a boy after his aunt noticed his genitalia, presented with bilateral gynaecomastia, small phallus with hypospadias, non-palpable gonads and lack of secondary sexual characters, but without short stature. Karyotype analysis revealed 46 XY karyotype. Testosterone level was raised at 10.31 ng/ml (2.84-8.0 ng/ml), dihydrotestosterone level was lower limit of normal at 1.06 nmol/L (0.85-3.37 nmol/L) and testosterone-to-dihydrotestosterone ratio is elevated at 34.6.Luteinizing hormone (LH) was 48.92 mIU/ml (1.1-7 mIU/ml)and follicle-stimulating hormone (FSH) was 34.48 mIU/ml (1.5-12.4 mIU/ml). Ultrasound (abdomen) revealed undescended testis at right upper inguinal area with no ovary or uterine slit. CT (Abdomen) showed mild hepatomegaly, no testes in scrotal sac and no undescended testes, uterus or prostate.MRI (Abdomen) was unable to be done at that time. Based on these results, he was diagnosed as partial androgen insensitivity syndrome with the main differential diagnosis of 5-alpha reductase type 2 deficiency.Bilateral mastectomy, diagnostic laproscopy with left orchidectomy and right orchidopexy were done to him. Right testicle could be brought to deep inguinal ring level. Right inguinal canal was explored again and testicle was further brought down. He was also treated with IM Testosterone 250 mg every 3 weeks for 8 months and thereafter, testosterone dose was increased to 250 mg every week. Significant improvement in phallus size was seen at 3 months follow up. The patient is being managed with multidisplinary approach (General surgeons, Urosurgeons and Endocrinologists).