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  1. Ovotesticular Disorders of Sex Development: Improvement in Spermatogonia after Removal of Ovary and Müllerian Structures
    Abd Wahab AV, Lim LM, Mohamed Tarmizi MH
    J Pediatr Adolesc Gynecol, 2019 Feb;32(1):74-77.
    PMID: 30248506 DOI: 10.1016/j.jpag.2018.09.006
    BACKGROUND: Ovotesticular disorders of sex development is a condition defined as the presence of ovarian tissue containing ovarian follicles and testicular tissue containing seminiferous tubules in the same individual.

    CASE: We report on a 19-year-old who is phenotypically male, with a 46,XX/46,XY mosaicism karyotype, who presented later in life with cyclical abdominal pain that resembled menstrual cramps and unilateral undescended testes.

    SUMMARY AND CONCLUSION: He underwent laparoscopic hysterectomy and right salpingo-oophorectomy, resulting in cessation of his symptoms and improved sperm count.

  2. Fulltext An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
    Ho JH, Abd Wahab AV, Fung YK, Khoo SSK
    Endocrinol Diabetes Metab Case Rep, 2021 Feb 17;2021.
    PMID: 33597313 DOI: 10.1530/EDM-20-0195
    SUMMARY: Polycystic ovarian syndrome (PCOS) is associated with menstrual irregularities, ovulatory dysfunction, hirsutism, insulin resistance, obesity and metabolic syndrome but is rarely associated with severe hyperandrogenaemia and virilisation resulting in male pattern baldness and clitoromegaly. Total serum testosterone greater than twice the upper limit of the reference range or free androgen index of over five-fold elevated suggests a diagnosis other than PCOS. We reported a case of a 15 years old obese girl presented with secondary amenorrhoea, virilising signs: frontal baldness, clitoromegaly and prominent signs of insulin resistance and marked acanthosis nigricans. Her total testosterone level was markedly elevated at 9.4 nmol/L (0.5-1.7 nmol/L) and MRI pelvis revealed a right ovarian mass with fat and cystic component and a left polycystic ovary. The patient underwent laparoscopic right ovarian cystectomy and histologically confirmed mature cystic teratoma. Post-operatively, her testosterone level declined but did not normalise, menses resumed but remained irregular. Her fasting insulin was elevated 85.2 mIU/L (3-25 mIU/L) and HOMA-IR was high at 13.1 (>2) with persistent acanthosis nigricans suggesting co-existing HAIR-AN syndrome, an extreme phenotype of polycystic ovarian syndrome.

    LEARNING POINTS: Rapid onset of hyperandrogenic symptoms, especially if associated with signs of virilisation must raise the suspicion of an androgen-secreting tumour. Total serum testosterone greater than twofold the upper limit of the reference range or free androgen indices over fivefold suggest a diagnosis other than polycystic ovarian syndrome (PCOS). High levels of testosterone with normal levels of the DHEA-S suggest an ovarian source. Ovarian androgen-secreting tumour and HAIR-AN syndrome, an extreme spectrum of PCOS can co-exist.

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