Endocrine Abstracts

Introduction: Perrault syndrome (PS), a rare autosomal recessive condition mostly reported in females, is characterized by sensorineural hearing loss (SNHL), ovarian dysgenesis manifesting as primary amenorrhoea (PA), premature ovarian insufficiency (POI) and neurological manifestations but little is known about testicular function in males.

Case summary: A 34 year-old man was referred with progressively reduced libido, erectile dysfunction and intermittent testicular pain with previous normal libido and sexual function until the age of 17. He had no history of mumps, testicular trauma, chemo-radiotherapy or anabolic steroids use. He had bilateral cochlear implants and neonatal hypospadias repair. His sister has PS type-4 (OMIM# 615300), with a phenotype of POI requiring HRT. He harbours the same pathogenic compound heterozygous variants in LARS2: c.1565C>A [p.T522N] and c.351G>C [p.M117I]. He was well virilised (normal facial hair and frontal balding), but had small testes (3 and 10 ml – confirmed on sonography) and azoospermia but normal ejaculatory volume. Hormonal workup showed normal Leydig and Sertoli cell function with normal LH, FSH, AMH, Prolactin, Testosterone and free testosterone. Although he did not proceed to testicular biopsy, the likely clinical picture was a problem with spermatogenesis.’ Management included psychosexual counselling, maximal doses of various phosphodiesterase inhibitors, intra-urethral alprostadil, intra-cavernous alprostadil and vacuum devices, but with only minimal benefit. This impacted adversely on his personal life and reinforced his psychological stress.

Conclusions: 1. Our patient had an isolated defect of spermatogenesis, but exhibited no biochemical features of testosterone deficiency or of defective Leydig-Sertoli cell function despite a compelling clinical history. Thus, the cause of his profound sexual dysfunction has not been elucidated by us.2. PS should be considered when SNHL is associated with infertility, testicular atrophy or a positive family history.3. Earlier diagnosis in males may enable sperm freezing prior to progression to testicular atrophy.