46 XY DISORDER OF SEX DEVELOPMENT DUE TO SWYER SYNDROME IN A 17-YEAR-OLD ADOLESCENT: A Rare Case Report

Harry Galuh Nugraha; Faras Hilmy Surya Dwi Utama

46 XY DISORDER OF SEX DEVELOPMENT DUE TO SWYER SYNDROME IN A 17-YEAR-OLD ADOLESCENT: A Rare Case Report

Authors

Harry Galuh Nugraha Department of Radiology, Faculty of Medicine Padjadjaran University, Dr. Hasan Sadikin Hospital Bandung, Indonesia
Faras Hilmy Surya Dwi Utama Department of Radiology, Faculty of Medicine Padjadjaran University, Dr. Hasan Sadikin Hospital Bandung, Indonesia

Keywords:

46 XY DSD, Swyer syndrome, primary amenorrhea, hypergonadotropic

Abstract

Background: 46, XY Disorder of Sex Development (DSD) due to pure gonadal dysgenesis, known as Swyer syndrome, is a rare condition with an estimated incidence of approximately 1 in 80,000 live births. It is characterized by a 46 XY karyotype in phenotypic females with nonfunctional streak gonads, hypergonadotropic hypogonadism, and increased risk of gonadal malignancy.

Case Presentation: A 17-year-old phenotypic female presented with primary amenorrhea and absent breast development. Hormonal evaluation revealed low estradiol, markedly elevated FSH and LH, and low testosterone levels. Karyotype analysis demonstrated 46 XY. Pelvic MRI showed a streak uterus with a single cervix and vagina. Bone mineral density (BMD) assessment revealed a Z-score of −3.7 SD. The patient was diagnosed with delayed puberty due to 46 XY DSD consistent with Swyer syndrome, accompanied by overweight. Laparoscopic gonadal exploration and staged estrogen replacement therapy were planned.

Conclusion: Swyer syndrome should be suspected in adolescents presenting with primary amenorrhea and hypergonadotropic hypogonadism. Early diagnosis is essential to prevent gonadal malignancy and long-term complications such as osteoporosis.

References

1. Swyer GIM. Male pseudohermaphroditism: a hitherto undescribed form. Br Med J. 1955;2(4941):709–12.

2. Hughes IA, Houk C, Ahmed SF, Lee PA; Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Clin Endocrinol Metab. 2006;91(8):2918–28.

3. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016;85(3):158–80.

4. Cools M, Looijenga LHJ, Wolffenbuttel KP, T’Sjoen G. Managing the risk of germ cell tumourigenesis in disorders of sex development patients. Endocr Dev. 2014;27:185–96.

5. Looijenga LHJ, Hersmus R, Oosterhuis JW, Cools M, Drop SLS, Wolffenbuttel KP. Tumor risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab. 2007;21(3):480–95.

6. Biason-Lauber A, Schoenle EJ. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive SRY and mutation of the SF1 gene. Am J Hum Genet. 2000;67(6):1563–8.

7. Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. BJOG. 2008;115(6):737–41.

8. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2017;177(3): G1–70.

9. Gordon CM, Leonard MB, Zemel BS; International Society for Clinical Densitometry 2013 Pediatric Official Positions Panel. 2013 Pediatric Position Development Conference: executive summary and reflections. J Clin Densitom. 2014;17(2):219–24.

10. Greulich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford (CA): Stanford University Press; 1959.

46 XY DISORDER OF SEX DEVELOPMENT DUE TO SWYER SYNDROME IN A 17-YEAR-OLD ADOLESCENT: A Rare Case Report