A 16-year-old girl comes to the office for a routine health maintenance examination. The patient is in high school, is performing well academically, and plays on the tennis team. She has no concerns today. On review of systems, the patient has not reached menarche, but she says that her mother did not start menstruating until this age. She recently started wearing contact lenses for myopia and uses an over-the-counter cream for acne. Height is at the 70th percentile and weight is at the 25th percentile for age. Blood pressure is 120/70 mm Hg and pulse is 60/min. Breast development is sexual maturity rating (Tanner stage) III. Pelvic examination shows sexual maturity rating (Tanner stage) III pubic hair development and normal external genitalia. Speculum examination reveals a well-rugated vagina but no cervix. FSH levels are within the normal pubertal range. Karyotype is 46, XX. Pelvic ultrasound reveals an absent uterus. Which of the following is the best next step in management of this patient?

Question

A 16-year-old girl comes to the office for a routine health maintenance examination.  The patient is in high school, is performing well academically, and plays on the tennis team.  She has no concerns today.  On review of systems, the patient has not reached menarche, but she says that her mother did not start menstruating until this age.  She recently started wearing contact lenses for myopia and uses an over-the-counter cream for acne.  Height is at the 70th percentile and weight is at the 25th percentile for age.  Blood pressure is 120/70 mm Hg and pulse is 60/min.  Breast development is sexual maturity rating (Tanner stage) III.  Pelvic examination shows sexual maturity rating (Tanner stage) III pubic hair development and normal external genitalia.  Speculum examination reveals a well-rugated vagina but no cervix.  FSH levels are within the normal pubertal range.  Karyotype is 46, XX.  Pelvic ultrasound reveals an absent uterus.  Which of the following is the best next step in management of this patient?

Quizplus · Accepted Answer

11ec25c8_d9a1_8198_bc81_bfc7d9946638_MD0003_00 This patient has an absent uterus and cervix with otherwise normal secondary sexual characteristics (eg, breasts, external genitalia) consistent with müllerian agenesis (ie, Mayer-Rokitansky-Küster-Hauser syndrome), abnormal müllerian duct development. The ovaries and external genitalia develop independently of the müllerian duct system; therefore, patients have normal FSH levels (ie, normal ovarian function), normal external genitalia, and the lower 2/3 of the vagina (ie, blind vaginal pouch). The internal genitalia derive from structures of the intermediate mesoderm, which develops into the paramesonephric (ie, müllerian) and mesonephric (ie, wolffian) ducts. The paramesonephric duct forms the uterus, fallopian tubes, cervix, and upper 1/3 of the vagina, and the mesonephric duct forms the primitive kidney. Because of their common embryologic source and synchronous development in the first trimester, internal genital anomalies are often concurrent with renal abnormalities. Therefore, women with müllerian agenesis should undergo evaluation of the renal tract (ie, ureters, kidney) with a renal ultrasound. Common abnormalities include unilateral renal agenesis, pelvic kidneys, and duplications of the collecting system. (Choice A) Testosterone and dihydrotestosterone levels are used to diagnose 5-alpha-reductase deficiency and androgen insensitivity syndrome (AIS). In 5-alpha-reductase deficiency, genotypic males (46,XY) appear phenotypically female until puberty; elevated testosterone levels at puberty then cause virilization (eg, clitoromegaly) and lack of breast development, which are not seen in this patient. In AIS, genotypic males appear phenotypically female through puberty and have breast development. In contrast to this patient, those with AIS have no/minimal acne or pubic hair development due to an abnormal androgen receptor. (Choice B) Echocardiogram is performed in patients with Turner syndrome to evaluate for cardiac malformations (eg, bicuspid aortic valve, aortic coarctation). This patient has a normal karyotype and FSH level (ie, normal ovarian function), making Turner syndrome unlikely. (Choice C) Hymenal incision is performed in patients with imperforate hymen, which causes primary amenorrhea. Patients have a uterus and a blue-tinged vaginal mass due to accumulated menstrual blood (ie, hematocolpos). hematocolpos (Choices D and F) TSH and prolactin levels are ordered in women with primary amenorrhea who have a uterus and low/normal FSH. MRI of the brain is indicated in patients with a low/normal FSH, high prolactin, or visual field defects (eg, hemianopsia) to evaluate hypothalamic and pituitary causes (eg, sellar mass). Educational objective: Müllerian agenesis causes primary amenorrhea due to the failed development of the uterus, cervix, and upper 1/3 of the vagina. Urogenital development is from a common embryologic source; therefore, renal malformations are common and patients require evaluation with a renal ultrasound. References: ACOG Committee opinion: no. 728: Müllerian agenesis: diagnosis, management, and treatment. (http://www.ncbi.nlm.nih.gov/pubmed/29266078) Mayer-Rokitansky-Küster-Hauser syndrome: complications, diagnosis and possible treatment options: a review. (http://www.ncbi.nlm.nih.gov/pubmed/24948340)

A 16-Year-Old Girl Comes to the Office for a Routine