A Rare Presentation of Disorder of Sex Development

Disorder of sex development (DSD) is the term ascribed to a wide group of disorders presenting with congenital discord between chromosomal sex and phenotypic manifestation. Its incidence is 1 in 4500 births. 46 XX testicular DSD is a rare disorder characterized by the discordance between female karyotype and male phenotype. Its incidence is 1:20,000 to 25,000 male infants. It is further classified into SRY positive and SRY negative individuals, depending on the presence or absence of sex-determining region Y gene (SRY) on the X chromosome as a result of translocation. We are hereby reporting a rare case of de la Chapelle syndrome (SRY negative). A 30-year-old phenotypical male presented to us with complaints of primary infertility. He had had hypospadias during his childhood and underwent corrective surgery at the age of 18 years. For the previous 1.5 years, he had been complaining of decreased libido, difficulty in micturition, and presence of watery ejaculate. On examination, he had bilateral palpable testis with the testicular volume of 7 mL each, curved micropenis with chordee, and eccentric meatus with fistula. Semen analysis revealed azoospermia and hormonal profile was consistent with hypergonadotropic hypogonadism. His karyotyping turned out to be 46 XX chromosome without the SRY gene on polymerase chain reaction (PCR) array. He was medically treated with testosterone and underwent surgical correction of chordee.  The SRY negative testicular 46 XX disorder is a rare expression and can be diagnosed at the time of birth with the presence of severe hypospadias, cryptorchidism, or ambiguous genitalia. All new-borns with these findings should undergo evaluation for the disorder of sexual development. Such individuals can never father a child and genetic counseling should be offered. Infertility is the main concern for such individuals which can be addressed by in vitro fertilization (IVF) with a sperm donor or adoption.