A 16-Year-Old With Amenorrhea and Delayed Breast Development

Varshini Chakravarthy, MD; Sehar Ejaz, MD

Disclosures

January 14, 2020

Physical Examination and Workup

The patient's vital signs are within normal limits. Her temperature is 98.5°F (37°C). Her heart rate is 88 beats/min. Her blood pressure is 120/80 mm Hg. Her respiratory rate is 20 breaths/min. Her growth parameters show a height of 169 cm (75th-90th percentile), a weight of 172 lb (78 kg; 95th-97th percentile), and a body mass index of 27 kg/m2 (90th-95th percentile).

Physical examination reveals a well-appearing, well-groomed teenage girl. She has no significant acne, acanthosis nigricans, or hirsutism. She has a Sexual Maturity Rating of II for breast development and III for pubic hair growth. Genital examination shows grossly female external genitalia. She has normal labia majora. Her clitoris, labia minora, and hymen are not visualized. No masses or bulging membranes are noted in her lower abdomen or pelvic region.

The rest of the physical examination findings are within normal limits. Results of initial blood tests are shown in the following table:

Test

Results

Reference Value

Thyroid-stimulating hormone level

3 uIU/mL

0.45-4.5 uIU/mL

Free thyroxine level

1.3 ng/dL

0.93-1.60 ng/dL

Dehydroepiandrosterone sulfate level

159 µg/dL

Females (Tanner II): 15-113 µg/dL

Females (Tanner III): 42-162 µg/dL

Androstenedione level

28 ng/dL

Females (Tanner II): < 10-72 ng/dL

Females (Tanner III): 50-170 ng/dL

Free testosterone level

5 pg/mL

Females (Tanner II): 0.8-4.7 pg/mL

Females (Tanner III): 1.1-9.6 pg/mL

Total testosterone level

30 ng/dL

Females (Tanner II): 10-24 ng/dL

Females (Tanner III): 7-60 ng/dL

Luteinizing hormone level

26.5 uIU/mL

Females (Tanner II): 0.02-4.7 uIU/mL

Females (Tanner III): 0.10-12.0 uIU/mL

Follicle-stimulating hormone level

57.3 mIU/mL

Females (Tanner II): 1-10.8 mIU/mL

Females (Tanner III): 1.5-12.8 mIU/mL

Estradiol level

20 pg/mL

Females (Tanner II): 10-24 pg/mL

Females (Tanner III): 7-60 pg/mL

Anti-Müllerian hormone level

0.45 ng/mL

Females (aged 7-19 y): 1.05-12.86 ng/mL

Inhibin A level

2 pg/mL

Females (aged 12-17): 74-470 pg/mL

Pelvic ultrasonography reveals the presence of a small uterus and streak ovaries. Karyotype and microarray testing reveal 46,XY chromosomes. Genetic analysis reveals a MAP3K1 mutation.

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