TY - JOUR AU - Haroon, Dr Zujaja Hina AU - Ijaz, Aamir AU - Haroon, Muhammad Asad AU - Asif, Naveed AU - Malik, Qudrat Ullah AU - Ayyub, Muhammad PY - 2018/02/28 Y2 - 2024/03/29 TI - SPECTRUM OF XY DISORDERS OF SEX DEVELOPMENT IN PAKISTAN: XY Disorders of Sex Development JF - Pakistan Armed Forces Medical Journal JA - PAFMJ VL - 68 IS - 1 SE - Original Articles DO - UR - https://pafmj.org/PAFMJ/article/view/1557 SP - 18-23 AB - <p><strong>Objective:</strong> To determine the clinico-endocrinal spectrum of XY Disorders of Sex Development (DSD) according to<br>the new classification in our population.<br><strong>Study Design:</strong> Cross sectional study.<br><strong>Place and Duration of Study:</strong> Department of Chemical Pathology and Endocrinology Armed Forces Institute of<br>Pathology Rawalpindi, from Jan 2012 to Aug 2015.<br><strong>Material and Methods:</strong> A total of 151 patients who reported for work-up of DSD during 2012-2015 and labeled<br>XY on karyotyping were included in the study. Patients without karyotyping results, mixed sex chromosome or<br>XX karyotypes were excluded from the study. Patient’s clinical features and results of serum hormones i.e. LH,<br>FSH, Testosterone, 17 hydroxy progesterone, DHEAS and hCG stimulation test were analyzed.<br><strong>Results:</strong> Out of 151 patients of XY DSD, 68 (45%) patients were diagnosed as partial androgen insensitivity<br>syndrome (PIAS), 18 (12%) as isolated micropenis, 25 (16.6%) as partial gonadal dysgenesis, 12 (7.9%) as<br>hypogonadotropic hypogonadism, 11 (7.2%) as primary hypogonadism, 13 (8.6%) as complete androgen<br>insensitivity syndrome (CAIS) and 4 (2.6%) as 5α reductase deficiency. There was a wide variation in age of<br>presentation ranging from three months to twenty five years with the median age of 9.5 years. Nineteen (12.6%)<br>were raised as female and 132 (87.4%) were raised as male. The main complaints at presentation were ambiguous<br>genitalia (30.5%), undescended testes (21.2%), delayed puberty (19.2%), micropenis (16.6%), inguinal hernia<br>(8.6%), and primary amenorrhea (3.9%).<br><strong>Conclusion:</strong> Androgen insensitivity syndrome (AIS) in its various forms is the commonest of all XY DSD. All DSD<br>including AIS require complete investigations in a tertiary care setup.</p> ER -