ABSTRACT
Background: In non-classic 21-hydroxylase deficiency, age at presentation and genital findings are variable. Late diagnosis with dramatic signs of virilization precludes early treatment and thus prevention of anatomic and psychosocial consequences. The following case illustrates the complexity of late diagnosis.Case: An 18-year-old West Indian female was seen for evaluation of clitoromegaly and hirsutism discovered in the emergency department when she presented after sexual assault. She had allegedly been drugged and raped in her dorm room. She was a college student with an athletic scholarship and had a striking masculinized, broad-shouldered appearance. She denied any use of anabolic steroids or other drugs. Menarche was at age 16 with infrequent menses. She was sexually active with 4 life-time partners, all male. On physical exam, her height was 152 cm, weight 50 kg, blood pressure 110/70 mm Hg. Breasts were hypoplastic with hyperpigmented nipples. She was hirsute with a Ferriman-Gallwey score of 14. Genitalia were abnormal with clitoris measuring 5.5 x 1.5 cm and posterior labial fusion. Initial non-fasting serum 17-hydroxyprogesterone level was 2890 ng/dL, testosterone was 274 ng/dL, and cortisol was 9 &mgr;g/dL. Chromosome analysis was 46, XX and ACTH stimulation test confirmed the diagnosis of 21-hydroxylase deficiency. The patient was initially reluctant to begin glucocorticoid treatment because of concern that it would decrease her muscle mass and negatively impact on her athletic performance and scholarship support. One year after diagnosis and 10 months after beginning treatment, she elected surgical correction of her clitoromegaly because of extreme embarrassment over having erections during sex. She underwent excision of most of the corpus cavernosum with repositioning of the glans. The neurovascular elements were preserved. The patient is pleased with the cosmetic result and reports no change in achieving orgasm. She has not notices any change in muscle mass or athletic performance since beginning glucocorticoid therapy.Conclusion: This case illustrates the somatic and genital abnormalities as well as the psychosocial impact of a delayed diagnosis of 21-hydroxylase deficiency in this young female athlete.
ABSTRACT
A 17-year-old female was brought in complaining of severe chest pain and difficulty breathing after being raped in the subway. During the assault, she developed palpitations, followed by dizziness, and ultimately loss of consciousness. Her medical history is significant for multiple surgeries for congenital heart disease. At the time of admission she was on furosemide and digoxin therapy but her compliance was doubtful. Both her parents were afflicted with AIDS. She had expressed suicidal thoughts, was sexually active, rarely used condoms and no other methods of birth control, and was regularly using marijuana. Her cardiac condition was promptly stabilized with cardioversion, but this case illustrates the important aspects of the interaction of biopsychosocial factors and chronic illness in adolescence. Serious sequelae, such as noncompliance with medical regimens, unintended pregnancies, sexually transmitted disease, substance abuse, sexual victimization, and suicide attempts, can result from failure to address such concerns in a timely fashion.
ABSTRACT
The authors discuss in detail the pharmacology and toxicity of illicit drugs that pose a major threat to adolescent health, including marijuana, cocaine, hallucinogens, opiates, inhalants, and designer drugs. The discussion of each drug concludes with guidelines for clinical management of adolescent users.
ABSTRACT
The authors review physical and psychosocial development in adolescents with chronic medical illness and the available data with regard to their sexual behavior. The relationship of various chronic diseases and their therapies to health-related outcomes of sexual behavior and the management of sexuality in adolescents with chronic illness are discussed.
