Endocrine Abstracts

Case history: A 29-year-old man presented with infertility. He also complained of difficulty in passing urine. He also complained of low libido and ejaculate was also noted to be watery. He complained of occasional difficulty in maintaining erections. He denied history of trauma, radiation exposure or use of illicit drugs. He had normal pubertal development and secondary sexual features. He had undergone a surgery about 11 years ago in Nigeria for hypospadias. Hypospadias was identified at the time of his birth. He then moved to UK and started experiencing these symptoms about 2 years ago. The testicular volume was about 7 mls bilaterally with curved small penis with chordae and eccentric meatus with fistula. Normal secondary sexual features.

Investigations: Hormone profile: FSH 25 IU/l (1.5–12.4); LH 14.9 IU/l (1.7–8.6), testosterone 8.3 nmol/l (7.6–31.4). Semen analysis: azoospermia. The karyotype analysis: 46, XX; pattern of X chromosome normal. No SRY (sex-determining region on the Y chromosome) of Y chromosome was detected with microdeletion PCR array.

MRI abdomen and pelvis: Miillerian duct remnants in the midline posteriorly. Small gonads in scrotum, small prostate identified. However, no uterus or cervix found. No other gonadal tissue identified.

Bone mineral density: mild osteopenia.

Treatment: Given the partial gonadal failure and his desire to improve erections and libido, he was started on testosterone replacement. He had corrective surgery for the urethral meatus and penile curvature. His case is still being discussed for micro TESE although, limited literature available for this chromosomal abnormality is not very supportive of this approach.

Conclusion: We present here a case with rare chromosomal abnormality who presented with infertility. 46 XX with SRY negative is rare cause of infertility.

Learning points: Karyotyping should be considered in appropriate adult patients which could give answer to the presenting problem.