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A rare case of DSD diagnosed as Swyer syndrome

Author: 
Dr. Subir Swar, Dr. Animesh Maiti, Dr. Ashish Kumar Basu, Dr. Anirban Sinha, Dr. Praveen Devarbhavi, Dr. Neeraj Sinha, Dr. Tapas Chandra Das and Kingshuk Bhattacharjee
Subject Area: 
Health Sciences
Abstract: 

Introduction: Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal mullerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Case report: A23 years old Indian female with normal female genitalia presented with arrested secondary sexual character (arrested breast development) & absence of regular menstrual cycle. Chromosomal Analysis revealed- 46XY karyotype. So it is a case of 46XY DSD with female external genitalia. She failed to achieve secondary sexual characteristics until five years back when she was treated with OCP &subsequently developed scanty pubic hair along with painful breast enlargement. She had periodic cyclical bleeding which stopped after discontinuing OCP. Further investigation for primary amenorrhea & laparoscopy showed rudimentary uterus & B/L streak gonads. She underwent prophylactic gonadectomy with H/P report showing loose textured fibrous tissue on right side & fibro collagenous tissue with epididymal duct on left side, no palpable gonads in labia majora or in the inguinal region & presence of uterus, female range testosterone & undetectable AMH which excludes CAIS (complete androgen insensitivity syndrome). Our case also didn’t have ovarian tissue, thus, the differential diagnosis was made based on true hermaphroditism/ovotesticular DSD can be ruled out. Conclusion: This patient has bilateral streak gonads that do not secret sex steroids or AMH. Hence serum AMH is undetectable, and rogens (of adrenal origin) are low and do not respond to HCG stimulation and gonadotropin levels are elevated. Consequently, this patient has female external & internal genitalia. All the above mentioned facts led to the diagnosis of Complete Gonadal Dysgenesis or Swyer Syndrome.

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