(11.02) The many misdiagnoses of Swyer Syndrome, from Turner syndrome to complete androgen insensitivity syndrome: A case report.

A 34-year-old patient who identifies as a female came to the endocrinology clinic for amenorrhea. At the age of 16, she initially presented with primary amenorrhea but was otherwise healthy. She had delayed Tanner II breast development, normal external female genitalia, axillary and pubic hair, and a horseshoe kidney. Initial laboratory results indicated primary hypogonadism with elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH), reduced estradiol levels, normal female testosterone levels, normal electrolytes, and 17-hydroxyprogesterone. A pelvic ultrasound revealed a small uterus and fallopian tubes with the absence of ovaries. A year later, she underwent bilateral laparoscopic gonadectomy showing streak ovaries without malignancy or testicular tissue, and the patient was initially diagnosed with Turner’s syndrome—hormone replacement therapy with estrogen and progesterone-induced menstrual periods and complete breast development.

Subsequent genetic testing led to the discovery of a 46 XY karyotype, and she was then diagnosed with Complete Androgen Insensitivity Syndrome (CAIS). Years later, she self-discontinued estrogen replacement therapy and developed symptoms of amenorrhea and dyspareunia when she presented for a second opinion. Upon examination, we observed normal external genitalia and complete breast development. Hormonal testing demonstrated hypogonadism with low estradiol and testosterone and elevated LH and FSH. After a comprehensive review, the final diagnosis of Swyer Syndrome was made, nearly two decades after the initial presentation. The patient has recommenced estrogen and progesterone therapies for bone health support.

 


Discussion :

Mutations or deletions affecting the sex-determining region Y (SRY) gene on the Y chromosome are associated with complete gonadal dysgenesis, known as Swyer Syndrome. This condition, although rare (affecting approximately 1 in 80,000 genotypic males) may be confused as CAIS, congenital adrenal hyperplasia (CAH), or Turner’s syndrome. This case highlights the intricacies involved in diagnosing gonadal dysfunction disorders, emphasizing the potential for diagnostic errors. Furthermore, it underscores the importance of documenting secondary sexual characteristics and conducting proper genital examination, hormonal testing, and karyotype analysis when assessing primary amenorrhea to arrive at the correct diagnosis. This allows for timely prophylactic gonadectomy where appropriate and necessary genetic counseling and hormone therapies.