A 19-year-old girl comes to your office complaining of no menses and no cyclical pain despite having her breast developed at 13 years of age. She stated that she does not have any other complains. Physical examination noted Tanner stage 4 breasts and genitalia was normal except for a vaginal dimple.
- Primary amenorrhea
- Breast development
- No cyclical pain
- Vaginal dimple
- Vaginal agenesis
- Androgen insensitivity syndrome
No uterus was visualized
- FSH and LH
- 17- Hydroxyprogesterone
Primary amenorrhea is the failure to menstruate by the age of 16 years in the presence of normal secondary sexual development or by 14 years in the absence of secondary sexual characteristics warrants investigation.
Vaginal agenesis ,also called müllerian agenesis,müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome. With normal XX karyotype and normal ovaries, their secondary sex characteristics are well-developed. It is dut to agenesis or hypoplasia of the müllerian duct system leading to the congenital absence of the vagina and an absent or rudimentary uterus.
Androgen insensitivity syndrome with karyotype 46,XY have functional testes that produce testosterone .However, a defect in the androgen receptor leads to development of female appearing external genitalia and breasts.
Serum testosterone levels within the normal range for females can help differentiate vaginal agenesis from androgen abnormalities in which levels are elevated.
IMPORTANT: Evaluate for other congenital anomalies.( Renal & skeletal)
First line: Nonsurgical vaginal elongation by dilation
Surgery can be offered for those with failed dilatation or according to patient preferences.
Stuebe Alison, Auguste Tamika, G. M. (2018). Acog c ommittee opinion. Obstetrics & Gynecology, 131(736), 140–150.