A diagnosis of Turner syndrome should be considered in any teenage girl with primary or secondary amenorrhea, especially with short stature and several incidental physical findings, researchers reported in Cureus.
The study authors detailed their findings in a 24-year-old woman with a history of multinodular goiter and hypothyroidism who presented to an endocrine clinic in Pakistan.
The patient had been receiving thyroxin replacement and was clinically and biochemically euthyroid. A fine needle aspiration cytology report of bilateral thyroid nodules revealed Bethesda category IV, and primary amenorrhea was an incidental finding. She had learning difficulties and had not attended school.
The woman had short stature and a webbed neck, with minimal axillary hair, pubic hair (Tanner stage 1), no breast development (Tanner stage 1), a high arch palate, and squint. An external genital examination was unremarkable, and her body mass index (BMI) was 20 kg/m2. The patient also had ocular (strabismus ptosis) and dermatological (melanocytic nevi) issues.
Biochemical analysis confirmed hypergonadotropic hypogonadism, and imaging confirmed the absence of ovaries and fallopian tubes, and a streaked uterus. An X0 karyotype result confirmed the diagnosis of Turner syndrome.
The patient is currently receiving psychological support and counseling with the support of her family as well as hormone replacement therapy with ethinylestradiol/levonorgestrel. Histopathology of her thyroid tissue revealed adenomatous colloid goiter, and she is now doing well and receiving regular follow-up care.
Clinicians made 2 main differential diagnoses after their clinical assessment in this case—Turner syndrome and Müllerian agenesis with ovarian failure as the cause of primary amenorrhea.
The patient’s low IQ and socioeconomic level may have been potential factors in the delayed diagnosis, noted the investigators.
Patients who present with primary amenorrhea should have a thorough review of their clinical history and a complete physical examination, including external and internal genitalia, advised the study authors. Karyotyping should be conducted in all patients with hypergonadotropic hypogonadism and androgenic features.
Patients with Turner syndrome may present with primary amenorrhea and lack of secondary sexual characters if ovarian failure develops before the onset of puberty. A lack of secondary sexual features in this patient was due to the absence of estrogen before puberty onset.
“Clinicians from all specialties should be mindful of the characteristic clinical features of this uncommon entity and should do their best to make the best use of incidental clinical findings,” stated the study authors. “Secondly, clinicians should employ extreme vigilance and thoroughness in their clinical assessment of patients with learning difficulties so that a clinical diagnosis of primary amenorrhea is not missed.”
Alvi AM, Siddiqi AI, Azmat U, Shafiq W, Khan SA. Published December 8, 2021. doi:10.7759/cureus.20285