A 5-year-old girl is brought to the office for evaluation of pubic hair. Her mother first noticed dark hair in the genital area while helping her daughter bathe several weeks ago. The patient has also developed axillary hair and adult-type body odor over the last 2 weeks. She has no known medical conditions and takes no daily medications. She started kindergarten 3 months ago. The girl's mother underwent menarche at age 12. Weight is at the 75th percentile, height is at the 90th percentile, and BMI is at the 25th percentile. Fundoscopic examination and pupillary reaction are normal bilaterally. Cardiopulmonary examination is normal. The abdomen is soft and nontender; no masses are palpable. Breasts are prepubertal. Sparse, dark, coarse hair is noted in both axillae and over the mons pubis and labia majora. There is no clitoromegaly. Mild comedonal acne is present on the forehead, nose, and chin. Which of the following is the best next step in evaluation of this patient?

Question

A 5-year-old girl is brought to the office for evaluation of pubic hair.  Her mother first noticed dark hair in the genital area while helping her daughter bathe several weeks ago.  The patient has also developed axillary hair and adult-type body odor over the last 2 weeks.  She has no known medical conditions and takes no daily medications.  She started kindergarten 3 months ago.  The girl's mother underwent menarche at age 12.  Weight is at the 75th percentile, height is at the 90th percentile, and BMI is at the 25th percentile.  Fundoscopic examination and pupillary reaction are normal bilaterally.  Cardiopulmonary examination is normal.  The abdomen is soft and nontender; no masses are palpable.  Breasts are prepubertal.  Sparse, dark, coarse hair is noted in both axillae and over the mons pubis and labia majora.  There is no clitoromegaly.  Mild comedonal acne is present on the forehead, nose, and chin.  Which of the following is the best next step in evaluation of this patient?

Quizplus · Accepted Answer

11ec25c8_d666_a205_bc81_9d3ba5bb1fe5_MD0003_00 This child has precocious puberty, the premature development of secondary sexual characteristics in girls age <8 or in boys age <9. Secondary sexual characteristics include breast tissue (stimulated by estrogens), as well as acne, adult-type body odor, and pubic and axillary hair (stimulated by androgens). By history and examination, the patient in this vignette has signs of excess androgens (ie, acne, body odor, axillary and pubic hair) but normal estrogen levels (no evidence of breast development). Initial management typically includes a bone age evaluation, which is a radiographic assessment of the hand and wrist to assess skeletal maturation. Normal ossification of bone occurs in a predictable, age-specific sequence. This ossification can be affected by genetics and nutrition in addition to pathologic hormonal causes (eg, excessive estrogen). For example, premature elevated estrogen in cases of precocious puberty can lead to premature epiphyseal fusion and, in turn, an advanced bone age compared to chronologic age. Conversely, if a patient's bone age correlates with chronologic age, the clinical findings are often attributed to a benign pubertal variant. (Choice B) Karyotype analysis, which identifies chromosomal abnormalities, is not routinely performed in the evaluation of precocious puberty. Karyotyping is most useful postnatally when a specific chromosomal disorder is suspected (eg, Klinefelter syndrome, Turner syndrome). (Choice C) An abdominal or pelvic ultrasound may be indicated in the evaluation of precocious puberty if there is concern for a peripheral production of endogenous hormones (eg, ovarian or adrenal tumor). Supportive findings would include an advanced bone age with suppressed LH and FSH levels. This patient's presentation first warrants a bone age evaluation. (Choice D) Prolactinomas are typically benign pituitary tumors that produce elevated prolactin levels causing secondary amenorrhea and/or galactorrhea. An elevated prolactin level does not cause precocious puberty. (Choice E) Rarely, chronic hypothyroidism can present with precocious puberty in addition to classic signs of hypothyroidism (eg, constipation, short stature). TSH is thought to inappropriately activate the FSH receptor. However, the increased estrogens produce breast development or vaginal bleeding, which this patient does not have. Educational objective: Precocious puberty is the onset of secondary sexual characteristics before age 8 in girls and age 9 in boys. Initial evaluation includes obtaining a bone age evaluation to assess skeletal maturation. References: Premature adrenarche. (http://www.ncbi.nlm.nih.gov/pubmed/29323690)

A 5-Year-Old Girl Is Brought to the Office for Evaluation