Abstract
Background: Swyer Syndrome is an extremely rare disorder of sexual development. These patients often present with primary amenorrhea during adolescence and are phenotypically female with 46 XY chromosomes. Given the association of invasive gonadal malignancies with this disorder, suspicion should be high in patients who present with a stagnant or decreased rate of pubertal progression. We present a case of Swyer Syndrome in a 14-year-old female with primary amenorrhea in the setting of decreased pubertal progression. Case: A 14-year-old female presents with a chief complaint of primary amenorrhea. She first noticed breast budding 2 years prior but reports no significant increase in breast tissue over the last 2 years. She does not appreciate any other signs of puberty. She denies any acne, body odor, hirsutism, hair loss, or abdominal/pelvic pain. She denies any changes in her diet or physical activity and is not on any medication. No history of cancer, surgeries, or radiation exposure. There is no family history of infertility or delayed puberty. Her vitals on presentation are within normal limits. Her growth parameters are the following: weight-69.9 kilos, height-163 cm, and BMI-26.3. Physical exam shows a well-appearing adolescent with grossly female external genitalia and the breast exam is SMR II. No pubic or axillary hair appreciated on the exam. Although our patient did not meet the traditional definition of primary amenorrhea, a workup was started due to the slow progression of puberty. Initial blood testing shows normal blood count, electrolytes and thyroid levels. DHEA-S androstenedione, free and total testosterone were all within normal limits. Further results such as LH (25.4 uIU/mL), FSH (56.5 mIU/mL) and estradiol (22 pg/mL) along with low levels of AMH (0.52 ng/mL) and inhibin A (1pg/mL) confirms suspicion for ovarian insufficiency. Chromosomal analysis and pelvic ultrasound findings of a small uterus and ovaries led to our diagnosis of Swyer syndrome. Our patient had surgical resection of both ovaries and fallopian tubes and the ovarian pathology showed gonadoblastoma with invasive dysgerminoma in both gonads. She was started on hormone replacement after gonadectomy. Conclusion: Although Swyer syndrome is uncommon with an incidence of 1 in 80,000, this case illustrates that suspicion for Swyer Syndrome should be high in patients with slow progression of puberty and primary amenorrhea (1). Early diagnosis is critical, as patients with gonadal dysgenesis are at great risk for germ cell cancers. Though most of these patients have an identifiable genetic mutation, we were unable to elicit the exact mutation in our patient despite whole-genome sequencing. References: Jaideep Khare, Prasun Deb, Prachi Srivastava & Babul H. Reddy (2017) Swyer syndrome: The gender swayer?, Alexandria Journal of Medicine, 53:2, 197–200, DOI: 10.1016/j.ajme.2016.05.006 Varshini Chakravarthy, Sehar Ejaz. A 16-Year-Old With Amenorrhea and Delayed Breast Development - Medscape - Jan 14, 2020
Reproductive potential in a case of Mosaic Turners syndrome with 46XY karyotype