A 13-year-old girl is brought to the office for evaluation of acne. She began to develop acne over her forehead and chin 4 months ago. She used over-the-counter topical salicylic acid, but the acne did not improve. Now, the patient has painful acne over her face and upper chest. She participates in a soccer league after school, and her mother feels that her exercise regimen is too strenuous and stressful and contributes to her acne. The patient has no medical conditions and has had no surgeries. She has not had a menstrual period. The girl has grown 10.1 cm (4 in) in the last year; her height and weight are at the 70th percentile for age. Vital signs are normal. Nodulocystic acne is present across the face and upper chest. There is no breast bud development. The abdomen is nontender and has no palpable masses. External pelvic examination shows the clitoris protruding from the clitoral hood and bilateral masses in the labia majora. Which of the following is the most likely diagnosis in this patient?

Question

A 13-year-old girl is brought to the office for evaluation of acne.  She began to develop acne over her forehead and chin 4 months ago.  She used over-the-counter topical salicylic acid, but the acne did not improve.  Now, the patient has painful acne over her face and upper chest.  She participates in a soccer league after school, and her mother feels that her exercise regimen is too strenuous and stressful and contributes to her acne.  The patient has no medical conditions and has had no surgeries.  She has not had a menstrual period.  The girl has grown 10.1 cm (4 in) in the last year; her height and weight are at the 70th percentile for age.  Vital signs are normal.  Nodulocystic acne is present across the face and upper chest.  There is no breast bud development.  The abdomen is nontender and has no palpable masses.  External pelvic examination shows the clitoris protruding from the clitoral hood and bilateral masses in the labia majora.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

11ec25c8_d9a0_9737_bc81_cdc59363782a_MD0003_00 During embryogenesis, sexual development in genotypically male fetuses (46,XY) occurs due to testicular hormone production. The testes produce testosterone, which promotes development of the male internal genitalia (eg, vas deferens, epididymis). Testosterone is also converted to dihydrotestosterone (DHT) via 5-alpha-reductase; DHT promotes development of the male external genitalia (eg, penis) and prostate. Patients with 5-alpha-reductase deficiency are unable to convert testosterone into DHT; therefore, they have no male external genitalia development, have undescended testes (eg, bilateral labial masses), and appear phenotypically female at birth. At puberty, increased testosterone levels cause virilization, such as nodulocystic acne and clitoromegaly (ie, clitoris protruding from the clitoral hood), of phenotypically female patients. Additional features of virilization may include voice deepening and increased muscle mass. The testosterone levels at puberty are at the normal male range; therefore, patients develop additional normal secondary sexual characteristics (eg, axillary and pubic hair). Patients have no breast development because testosterone binds to the breast androgen receptor and inhibits breast tissue proliferation. Diagnosis in adolescents and adults is based on an elevated testosterone/DHT ratio. Management is dependent on age and gender identity. (Choice B) Patients with androgen insensitivity syndrome (AIS) have a defective androgen receptor, which prevents virilization during embryogenesis. Fetuses have male internal genitalia (ie, testes) that produce testosterone but, due to peripheral testosterone resistance, do not develop male external genitalia. Therefore, patients with AIS appear phenotypically female at birth. However, in contrast to patients with 5-alpha-reductase deficiency, those with AIS have breast development at puberty as the defective androgen receptor is unable to inhibit breast tissue proliferation. (Choice C) Patients with nonclassic congenital adrenal hyperplasia (21-hydroxylase deficiency) can have virilization; however, they are genotypically female (46,XX) and therefore do not have undescended testes (eg, bilateral labial masses). (Choice D) Ovarian hyperthecosis can present in women with virilization; however, patients are typically postmenopausal and have bilaterally enlarged ovaries (not testes). (Choice E) Patients with polycystic ovary syndrome have hyperandrogenism (eg, acne, hirsutism) but not virilization (eg, clitoromegaly). (Choice F) Sertoli-Leydig cell tumors are testosterone-producing ovarian tumors that can result in virilization. However, patients have a unilateral solid adnexal mass rather than bilateral undescended testes. Educational objective: 5-alpha-reductase deficiency causes impaired conversion of testosterone to dihydrotestosterone. In male fetuses, this impaired conversion during embryogenesis causes male internal genitalia and female external genitalia development, resulting in a phenotypically female infant. During puberty, increased testosterone levels result in virilization (eg, clitoromegaly) in these patients. References: Steroid 5a-reductase 2 deficiency. (http://www.ncbi.nlm.nih.gov/pubmed/27224879) 5-Alpha reductase deficiency: a 40-year retrospective review. (http://www.ncbi.nlm.nih.gov/pubmed/25321150) Diagnosis of 5a-reductase 2 deficiency: is measurement of dihydrotestosterone essential? (http://www.ncbi.nlm.nih.gov/pubmed/23513070)

A 13-Year-Old Girl Is Brought to the Office for Evaluation