A 7-year-old boy is brought to the office for evaluation of increasing acne and pubic hair. Last month, his mother first noticed "a few bumps" on his nose and forehead. Subsequently, the child developed numerous "bumps and pustules" on his face and back. Over the past month, his mother has also noticed pubic hair growth. The patient has no headache, vision changes, or vomiting. He has atopic dermatitis that is controlled with corticosteroid ointment. He takes a daily multivitamin and no other medications. His mother experienced menarche at age 12 and his father began to shave at age 14. The patient is in first grade, is a good student, and enjoys playing soccer. Temperature is 36.7 C (98 F), blood pressure is 100/60 mm Hg, and pulse is 84/min. Cranial nerves II-XII are intact. Visual fields have no deficits. There is scattered comedonal and inflammatory acne across the face, chest, and shoulders. Cardiac examination shows a regular rate and rhythm without murmur. The abdomen is soft and nontender with no hepatosplenomegaly. Genital examination reveals stage 2 sexual maturity rating for pubic hair. The testes are small and without masses. A bone age radiograph is consistent with age 9. Which of the following is the most likely diagnosis in this patient?
A)Congenital adrenal hyperplasia
B)Idiopathic premature pubarche
C)Leydig cell tumor
D)McCune-Albright syndrome
E)Normal pubertal variant

Question

A 7-year-old boy is brought to the office for evaluation of increasing acne and pubic hair.  Last month, his mother first noticed "a few bumps" on his nose and forehead.  Subsequently, the child developed numerous "bumps and pustules" on his face and back.  Over the past month, his mother has also noticed pubic hair growth.  The patient has no headache, vision changes, or vomiting.  He has atopic dermatitis that is controlled with corticosteroid ointment.  He takes a daily multivitamin and no other medications.  His mother experienced menarche at age 12 and his father began to shave at age 14.  The patient is in first grade, is a good student, and enjoys playing soccer.  Temperature is 36.7 C (98 F), blood pressure is 100/60 mm Hg, and pulse is 84/min.  Cranial nerves II-XII are intact.  Visual fields have no deficits.  There is scattered comedonal and inflammatory acne across the face, chest, and shoulders.  Cardiac examination shows a regular rate and rhythm without murmur.  The abdomen is soft and nontender with no hepatosplenomegaly.  Genital examination reveals stage 2 sexual maturity rating for pubic hair.  The testes are small and without masses.  A bone age radiograph is consistent with age 9.  Which of the following is the most likely diagnosis in this patient?
A)Congenital adrenal hyperplasia
B)Idiopathic premature pubarche
C)Leydig cell tumor
D)McCune-Albright syndrome
E)Normal pubertal variant

Quizplus · Accepted Answer

Explanation: 11ec2b69_c130_e4a2_8f63_23d50888c811_MD0005_00 Precocious puberty is defined as the onset of secondary sex characteristics in boys age <9 and girls age <8. True central precocious puberty (CPP) is due to early maturation of the hypothalamic-pituitary-gonadal axis. This causes the typical pubertal sequence, starting with breast or testicular development, to occur early. CPP can be idiopathic (in up to 90% of girls and 60% of boys) but can also be due to central nervous system (CNS) tumors, among others. In contrast, peripheral precocity is due to excess sex hormone (eg, androgen) production from the gonads, adrenal glands, or an exogenous source. This 7-year-old boy's bone age is advanced by 2 years and he has no evidence of pubertal testicular development or CNS tumors (eg, headache, visual changes). His diagnosis is most likely peripheral precocity due to nonclassic congenital adrenal hyperplasia (CAH). This autosomal recessive condition is caused by reduced 21-hydroxylase activity, which results in excess androgen production, manifested by acne and early pubic (and axillary) hair development. Boys have normal-sized testes, but girls often have hirsutism and menstrual irregularities. Although stature is tall in childhood, advanced bone age may result in short stature in adulthood due to early closure of the epiphyseal plates. Unlike patients with classic CAH (complete 21-hydroxylase deficiency), those with nonclassic CAH have no salt-wasting and are not identified by newborn screen. Diagnosis of nonclassic CAH is made by an elevated 17-hydroxyprogesterone on ACTH stimulation test. Treatment is with hydrocortisone. (Choice B) Idiopathic premature pubarche presents with isolated pubic hair development. These patients have a normal bone age and no additional signs of adrenarche (eg, acne). (Choice C) Although Leydig cell tumors can cause peripheral precocity, testicular asymmetry or a palpable testicular mass is expected on examination. (Choice D) McCune-Albright syndrome is a cause of peripheral precocity. However, it is also characterized by fibrous dysplasia and numerous café-au-lait macules with irregular borders. In addition, the syndrome is rare in boys, and those affected tend to have testicular abnormalities. This patient has normal testes and no café-au-lait macules. (Choice E) Signs of puberty in boys age <9 are considered abnormal and require further investigation. Educational objective: Nonclassic congenital adrenal hyperplasia presents after the neonatal period with signs of androgen excess without salt-wasting. Clinical manifestations include early pubic and axillary hair growth and severe acne, but no evidence of pubertal testicular enlargement. References: Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome. (http://www.ncbi.nlm.nih.gov/pubmed/26082286)

A 7-Year-Old Boy Is Brought to the Office for Evaluation