A concerned mother brings in her 16-year-old daughter because she hasn’t ever had a menstrual period. On exam, the girl is 173 cm (5 feet 8 inches) tall with mature adult breast development and scant to no pubic nor axillary hair. Vaginal exam is difficult and you are unable to identify a cervix nor palpate a uterus.
The most likely diagnosis is:
Correct Answer D: Complete androgen insensitivity syndrome (choice D) is due to a congenital lack of androgen receptors. The patient never develops the Mullerian system since the gonad produces anti-Mullerian hormone (AMH or MIF) form the Sertoli cells during organogenesis. Although the patient has a male level of testosterone and male levels of estrogen, since the androgens are not recognized, the breasts develop due to the presence of estrogens. Without androgens, these patients often have sparse to no sexual hair. As the gonad is an XY gonad, it must be removed to prevent the risk of malignant transformation; this is rare prior to puberty, so it can be removed after normal pubertal development has occurred (most common malignancy is a gonadoblastoma).
→ In androgenital syndrome (choice A) one would see the effects of excess androgen: hair growth, virilization, etc.
→ In a case of imperforate hymen (choice B) the vagina would be behind the imperforate hymen and not visible. If menses has begun, then there would be a bluish bulging mass (vagina full of old menstrual blood).
→ A uterus is present in Turner syndrome (choice C).
→ Although a uterus is absent in Mayer-Rokitansky-Küster-Hauser syndrome (choice E), sexual hair should be present since there is no defect in either androgen production or in androgen receptors.
A 17-year-old female presents to your department for evaluation. She reports that she has never had menstrual periods. Her pubic hair appeared at 8 years of age. Diagnostic studies with karyotype reveal 45 XO.
Which of the following findings is characteristic of this patient’s condition?
Correct Answer A:
This patient has primary amenorrhea since she has never had menstrual periods before. Primary amenorrhea is defined as the failure of menses to occur by age 16 years, in the presence of normal growth and secondary sexual characteristics. The findings of 45 XO on karyotype analysis confirms a diagnosis of Turner syndrome. Turner Syndrome patients have streak gonads and primary ovarian failure with decreased levels of estrogen. Gonadotropin levels, particularly follicle-stimulating hormone (FSH) levels, may be elevated at birth, although not reliably enough for use in neonatal screening. They are gradually suppressed by about age 4 years, only to rise to menopausal levels after age 10 years (choice A).
→ Decreased LH (choice B) is incorrect. Due to decreased estrogen levels and negative feedback, LH levels are usually elevated in Turner syndrome.
→ Increased estrogen (choice C) is incorrect. Ovarian failure leads to decreased estrogen levels.
→ Elevated testosterone (choice D) leads to hyperandrogenism and is not characteristic of Turner syndrome.
→ Decreased TSH (choice E) is incorrect. Though about 30% of Turner syndrome patients develop hypothyroidism, it is often primary hypothyroidism with elevated TSH.
Key point:
The most frequent cause of dyspareunia is:
Correct Answer D:
All of these conditions are associated with dyspareunia. Inadequate vaginal lubrication, however, is the most common cause of pain with intercourse and can be due to a wide variety of causes.
→ Although a cause, it is not the most common.
→ When the uterosacral ligaments and cul-de-sac are involved, or due to pelvic adhesive disease, then intercourse can become painful. It is not the most common cause.
→ Has been associated with dyspareuina. Not a common cause.
→ See answer to B.
Of the following, which is the most appropriate initial antibiotic treatment for a tuboovarian abscess?
Correct Answer C: The CDC recommendations for the treatment of PID with intravenous medications include (A) cefoxitin and doxycycline, (B) clindamycin and gentamicin. In treating an abscess, it is necessary to have anaerobic coverage by agents such as clindamycin or metronidazole. Quinolones with clindamycin can also be used. Aminoglycosides do not cover against anaerobes since their transport into the bacterial cell is coupled with oxidative phosphorylation.
A. With this regimen, Gram-negative coverage may not be appropriate.
B. With this regimen, anaerobic coverage may not be appropriate.
D. With this regimen, anaerobic coverage may not be appropriate.
E. With this regimen, anaerobic coverage may not be appropriate.
A nonpregnant 17-year-old girl presents to your office for routine examination. On pelvic exam, you note several raised fleshly lesions on her vulva and vaginal wall. No vaginal nor cervical discharge is noted. Her inguinal nodes are slightly tender and palpable bilaterally. She appears to have a generalized maculopapular rash. On further questioning, she recollected a painless labial ulcer that resolves about 2 months ago.
The best treatment regimen for this patient is:
Correct Answer C:
The fleshy lesions described are known as condyloma lata. Along with her generalized rash (which does not spare the palms and soles), this patient has the classic picture of secondary syphilis. Single dose benzathine penicillin is the standard therapy for primary, secondary, and early latent (latent of less than 1 year duration). Triple dose therapy is necessary for late latent.
→ Laser ablation of the vulvar and vaginal lesions (choice A) and Trichloroacetic acid application of the vulvar and vaginal lesions (choice B) can be used for HPV lesions. This patient has secondary syphilis.
→ Benzathine penicillin g 2.4 million units IM, q week times three total doses (choice D) is used for late latent syphilis. This patient has secondary syphilis and only needs a single dose of benzathine penicillin.
→ Acyclovir 400 mg po, 5 times per day for 14 days (choice E) therapy is used to decrease the duration of herpes simplex infection.
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