A 6-year-old girl is brought to the clinic for evaluation of acne. Her parents first noticed mild acne on her forehead and nose 3 weeks ago as well as adult-type body odor that requires her to bathe more frequently. The patient was born at 35 weeks gestation but has no ongoing medical conditions. Blood pressure is normal. Weight is at or above the 97th percentile and height is at the 97th percentile. BMI is at or above the 97th percentile. Comedonal acne is present on the forehead, cheeks, and nose but not on the back or chest. Fundoscopic examination and pupillary reaction are normal bilaterally. Cardiopulmonary examination is normal. The areolae are enlarged, and breast tissue is palpable bilaterally. The abdomen is soft and nontender with no palpable masses. Coarse, dark pubic hair is noted. Bone age is 9 years. Laboratory results are as follows: Which of the following is the most likely diagnosis in this patient?

Question

A 6-year-old girl is brought to the clinic for evaluation of acne.  Her parents first noticed mild acne on her forehead and nose 3 weeks ago as well as adult-type body odor that requires her to bathe more frequently.  The patient was born at 35 weeks gestation but has no ongoing medical conditions.  Blood pressure is normal.  Weight is at or above the 97th percentile and height is at the 97th percentile.  BMI is at or above the 97th percentile.  Comedonal acne is present on the forehead, cheeks, and nose but not on the back or chest.  Fundoscopic examination and pupillary reaction are normal bilaterally.  Cardiopulmonary examination is normal.  The areolae are enlarged, and breast tissue is palpable bilaterally.  The abdomen is soft and nontender with no palpable masses.  Coarse, dark pubic hair is noted.  Bone age is 9 years.  Laboratory results are as follows:  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

Explanation: 11ec2b69_bed8_c41f_8f63_3d6bad1a5870_MD0005_00 Precocious puberty is the premature development of secondary sexual characteristics (eg, breast development, pubic hair) in girls age <8 or boys age <9. Elevated estrogen stimulates breast development (thelarche), and elevated androgens account for adult-type body odor, acne, and axillary and pubic hair (pubarche). Both estrogen and androgens promote bone maturation, resulting in advanced bone age relative to chronologic age. Most children are also tall for age, as seen in this patient with height at the 97th percentile. Precocious puberty is subdivided into central and peripheral causes. Central precocious puberty is associated with early activation of the hypothalamic-pituitary-gonadal axis, resulting in increased LH and FSH levels. Most cases are idiopathic but pathologic causes include CNS tumors. Conversely, peripheral precocious puberty is caused by abnormal secretion of sex hormones from other organs (eg, adrenals, ovaries, testes) and results in suppression of the hypothalamic-pituitary-gonadal axis and decreased LH and FSH levels. This child has central precocious puberty as evidenced by advanced bone age in addition to elevated LH and FSH levels. Treatment for central precocious puberty is a gonadotropin-releasing hormone agonist that downregulates LH and FSH, thereby slowing the progression of pubertal development. (Choice B) Late-onset congenital adrenal hyperplasia may present with premature adrenarche and advanced bone age; however, premature thelarche is not typical due to normal estrogen levels. In addition, 17-hydroxyprogesterone is typically elevated, unlike in this patient. (Choice C) McCune-Albright syndrome is characterized by a triad of irregular café-au-lait spots, fibrous dysplasia of bone, and peripheral precocious puberty due to elevated estrogens produced by ovarian cysts. Although bone age is advanced, LH and FSH levels are suppressed, not elevated as in this patient. McCune-Albright syndrome (Choice D) Polycystic ovary syndrome (PCOS) presents in postmenarchal girls with menstrual irregularities (eg, oligomenorrhea) and signs of hyperandrogenism (eg, hirsutism). PCOS is not associated with precocious puberty. (Choice E) Premature adrenarche presents with early-onset pubic and axillary hair in addition to adult-type body odor due to mildly elevated serum androgens (eg, dehydroepiandrosterone sulfate). Bone age is typically normal, and additional signs of puberty, such as breast development, are not typically present due to normal estrogen levels. Educational objective: Central precocious puberty is the onset of secondary sexual characteristics in girls age <8 and boys age <9 with advanced bone age and elevated LH and FSH levels. References: Disorders of puberty: an approach to diagnosis and management. (http://www.ncbi.nlm.nih.gov/pubmed/29094880)

A 6-Year-Old Girl Is Brought to the Clinic for Evaluation