Endocrine Abstracts

JOINT636

Introduction: Primary amenorrhea signifies underlying genetic or endocrine abnormalities, with Swyer Syndrome, or 46, XY Complete Gonadal Dysgenesis, being a rare cause. Characterized by a female phenotype and male karyotype, it results from failed gonadal differentiation, leading to streak gonads, hypoestrogenism, and increased malignancy risk. This case exhibits a rare presentation of Swyer Syndrome in a young adult with Type 1 Diabetes Mellitus.

Case Presentation: A 31-year-old Filipino female presented to our Outpatient Clinic with primary amenorrhea. She denied family history of infertility, delayed puberty, or atypical genitalia. Patient’s medical history revealed a diagnosis of Type 1 Diabetes Mellitus at the age of 22. During that time, laboratory findings demonstrated significant metabolic dysregulation, with a fasting blood sugar (FBS) of 279 mg/dl, indicative of marked hyperglycemia, and an HbA1C of 12.5%, reflecting prolonged poor glycemic control over preceding months. Additionally, serum C-peptide level of 0.11 nmol/lconfirmed severe insulin deficiency, characteristic of Type 1 Diabetes. Insulin therapy was promptly undertaken, and regular follow-up visits were done. Amenorrhea was unreported earlier due to stigma, cultural beliefs, financial constraints, and limited healthcare access. Physical examination revealed a female phenotype with normal external genitalia. Breast development and pubic hair growth corresponded to Tanner stage 2, but axillary hair was absent. These findings suggested significant delays in secondary sexual characteristics, prompting further investigation. Laboratory results showed hypergonadotropic hypogonadism, evidenced by elevated FSH (33.90 mIU/ml) and LH (12.93 mIU/ml), alongside a low estradiol level (10.57 pg/ml), pointing to ovarian insufficiency. Pelvic ultrasound demonstrated a hypoplastic uterus (4.6 × 2.3 × 1.6 cm), thin endometrium (0.2 cm), and a diminutive cervix (1.4 × 1.2 cm), without focal abnormalities. Bilateral ovaries were not visualized, indicating underdeveloped reproductive structures and necessitating further advanced imaging. Pelvic MRI corroborated ultrasound findings, revealing small uterus (2.2 × 3 × 0.7 cm), streak gonads, and a rudimentary vaginal canal. Chromosomal analysis confirmed the diagnosis of Complete Gonadal Dysgenesis or Swyer Syndrome with a 46, XY karyotype. The patient was advised to undergo prophylactic gonadectomy and hormonal replacement therapy but expressed reluctance due to cultural beliefs.

Conclusion: This case highlights the complexities of diagnosing and managing Swyer Syndrome, compounded by Type 1 Diabetes Mellitus. Early detection of primary amenorrhea and delayed puberty is essential for prompt intervention. A multidisciplinary approach is crucial for early recognition and priorities include reducing malignancy risk, and improving quality of life with hormonal therapy and psychosocial support.