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.
METHODS: A simple, 5-question online survey was conducted nationwide among registered Malaysian HPs, including doctors, nurses, assistant medical officers, and medical attendants.
RESULTS: A total of 529 HPs participated in the survey, with a median age of 35 years. Most had more than 5 years of working experience (74.7%) and worked in specialist hospitals (66.7%). Only 56.3% of HPs had heard of PAG services, and 43.7% were familiar with the HEADSS tool, with 60.2% using it in practice. Awareness was higher among doctors (61.4%), senior HPs (59.2%), and those in specialist hospitals (69.7%). Among doctors, both experience and workplace significantly impacted their awareness. Notably, 2% of doctors were unsure about which specialty was appropriate for referrals when managing acute abdomen in adolescents.
CONCLUSION: Overall, awareness of PAG services is low, with only 56.3% of HPs and 61.4% of doctors being familiar with the specialty. Management practices vary and lack standardization. We recommend implementing standardized training programs to improve the awareness and care for adolescent patients.
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.