A reproductive endocrinology clinic is evaluating four adolescent patients who each present with primary amenorrhea. Based on the findings from physical examinations, laboratory testing, and karyotype analysis, match each patient's clinical profile with the most likely diagnosis.
- Absent uterus, normal breast development, present axillary and pubic hair, 46,XX karyotype, normal female-range testosterone.Müllerian agenesis (Mayer-Rokitansky-Küster-Hauser syndrome)
- Absent uterus, normal breast development, scant or absent axillary and pubic hair, 46,XY karyotype, male-range testosterone.Complete androgen insensitivity syndrome
- Present uterus, absent breast development, low FSH and LH levels, normal karyotype, anosmia.Kallmann syndrome
- Present uterus, absent breast development, highly elevated FSH and LH levels, 45,X karyotype, short stature.Turner syndrome
Cevap
Profile 1 matches Müllerian agenesis. Profile 2 matches complete androgen insensitivity syndrome. Profile 3 matches Kallmann syndrome. Profile 4 matches Turner syndrome.
Each profile distinctly aligns with a classic etiology of primary amenorrhea, correctly mapping genetic, anatomical, and endocrinological findings to their underlying pathophysiology.
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Anahtar Kavram
The diagnostic algorithm for primary amenorrhea relies on pelvic ultrasound to evaluate for a uterus, followed by FSH and LH measurement to differentiate central from gonadal failure, and karyotyping to identify specific genetic syndromes.