A 16-year-old girl is brought to the office because she has not started her menstrual period. The patient's 14-year-old sister underwent menarche a few months ago and her mother began menstruating at age 13. The girl has had no headaches, changes in vision, weight gain, nipple discharge, or abdominal pain. She has no chronic medical conditions and has had no surgeries. The patient is not sexually active and is not on contraception. She plays basketball for her high school team. Height is at the 85th percentile and weight is at the 25th percentile for age. Vital signs are normal. Breast, axillary, and pubic hair development are sexual maturity rating (Tanner stage) IV. The abdomen is soft, nontender, and has no palpable masses. On pelvic examination, the external genitalia appear normal and the vagina ends in a blind pouch. Pelvic ultrasound reveals bilateral ovaries, but no uterus or cervix. Which of the following is the most likely diagnosis in this patient?

Question

A 16-year-old girl is brought to the office because she has not started her menstrual period.  The patient's 14-year-old sister underwent menarche a few months ago and her mother began menstruating at age 13.  The girl has had no headaches, changes in vision, weight gain, nipple discharge, or abdominal pain.  She has no chronic medical conditions and has had no surgeries.  The patient is not sexually active and is not on contraception.  She plays basketball for her high school team.  Height is at the 85th percentile and weight is at the 25th percentile for age.  Vital signs are normal.  Breast, axillary, and pubic hair development are sexual maturity rating (Tanner stage) IV.  The abdomen is soft, nontender, and has no palpable masses.  On pelvic examination, the external genitalia appear normal and the vagina ends in a blind pouch.  Pelvic ultrasound reveals bilateral ovaries, but no uterus or cervix.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

11ec25c8_d99f_d3e6_bc81_e3744bfe2b63_MD0003_00 This patient's primary amenorrhea, normal secondary sexual characteristics, and absent uterus are consistent with müllerian agenesis (also known as Mayer-Rokitansky-Küster-Hauser syndrome). During development, the müllerian (ie, paramesonephric) duct develops into the uterus, cervix, and upper 1/3 of the vagina. Patients with agenesis do not develop these structures and so have amenorrhea. Müllerian duct development does not affect ovarian development; therefore, patients have bilateral ovaries, normal estrogen levels, and normal secondary sexual characteristics (eg, breast development, normal stature). In addition, the external genitalia develop from a different precursor (ie, genital tubercle) and patients have normal female external genitalia and lower 2/3 of the vagina (ie, blind vaginal pouch). Due to the association with renal development, patients with müllerian agenesis may have renal system abnormalities (eg, duplicated ureters) that require evaluation (eg, renal ultrasound). Treatment of müllerian agenesis includes vaginal dilation to create a functional vagina for sexual intercourse. (Choice A) Androgen insensitivity syndrome occurs in genotypical males (46,XY) who have defective androgen receptor function. These patients appear phenotypically female and have primary amenorrhea, tall stature, and an absent uterus. However, they have minimal pubic/axillary hair (no peripheral effect of testosterone) and have male internal genitalia (ie, testes). (Choice B) Constitutional delay of puberty is a delay in thelarche (breast development), adrenarche (eg, pubic and axillary hair development), and menarche in patients with a uterus. This patient has breast and pubic hair development, making this diagnosis unlikely. (Choice C) Functional hypothalamic amenorrhea can present in athletes with primary amenorrhea. However, patients have breast atrophy secondary to low estrogen. There is no association with an absent uterus. (Choices D and F) Patients with an imperforate hymen or transverse vaginal septum may have primary amenorrhea. However, both are isolated genital outflow tract defects in patients who have a uterus. (Choice G) Patients with Turner syndrome (45,XO) can have primary amenorrhea due to decreased ovarian function (ie, gonadal dysgenesis), not an absent uterus. Due to low estrogen levels from the nonfunctioning ovaries, patients typically have short stature and minimal breast development, which are not seen in this patient. Educational objective: Patients with müllerian agenesis have primary amenorrhea due to an absent uterus, cervix, and upper 1/3 of the vagina (ie, blind vaginal pouch). However, because the ovaries and external female genitalia develop independently of the müllerian duct system, patients have normal external genitalia and secondary sexual characteristics. References: ACOG Committee opinion: no. 728: Müllerian agenesis: diagnosis, management, and treatment. (http://www.ncbi.nlm.nih.gov/pubmed/29266078) Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/29527097)

A 16-Year-Old Girl Is Brought to the Office Because She