Gonadal and mullerian agenesis

Case contributed by Dalia Ibrahim
Diagnosis almost certain

Presentation

Primary amenorrhea.

Patient Data

Age: 15 years
Gender: Female

MRI revealed both uterine and gonadal agenesis. No testicles were detected either.

X Y by FISH revealed 45 X female (Turner syndrome).

The hormonal profile revealed reduced estrogen and progesterone levels.

Case Discussion

MRI revealed both uterine and gonadal agenesis. The combined agenesis of the uterus and ovaries should raise the suspicion of either 45, X females or 46, XX female with estrogen deficiency or females with androgen insensitivity syndrome.

The hormonal profile revealed reduced estrogen and progesterone levels. Karyotype revealed 45, X female (Turner syndrome).

In this case, the uterus might be severely hypoplastic (MRHS) or underdeveloped secondary to estrogen deficiency.

In 46, XX, and 45, X females with ovarian insufficiency (gonadal dysgenesis) and estrogen shortage, Müllerian agenesis is occasionally incorrectly reported. Exogenous estrogen exposure has been found to stimulate uterine development in these patients, indicating that pubertal uterine development was lacking rather than agenesis. Prepubertal uterine imaging should generally be viewed cautiously due to the possibility of drawing erroneous conclusions about agenesis or aplasia.

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