A 32-year-old primipara is ready to be discharged after a full-term vaginal delivery that was complicated by a prolonged second stage of labor. She required a second-degree posterior vaginal repair, but had no periurethral trauma. A transurethral catheter was removed a few hours after delivery, but 48 hours later she complained of abdominal pain and a persistent need to urinate. The catheter was replaced and yielded approximately 2000 cc of straw-colored urine.
Urinary symptoms quickly resolved, but the patient continues to be unable to void on her own. A perineal examination is normal, as is a urinalysis.
Which one of the following would be the most appropriate management at this time?
Correct Answer E:
This patient suffers from postpartum urinary retention (PUR). PUR is often defined as a post-void bladder residual of at least 150 cc that is present 6 hours or more after delivery. This condition is more likely to occur in patients who are primiparous, have a prolonged first or second stage of labor, have instrumented vaginal deliveries, or require a cesarean section for failure to progress. The question of whether epidural anesthesia promotes the condition is still debated. Most cases of PUR will resolve 2-6 days after delivery, but some can take up to several weeks. The use of intermittent self catheterization or a transurethral catheter is recommended until the patient’s ability to spontaneously micturate returns. Imaging studies and referrals to a specialist are rarely necessary, and no medication has been proven helpful.
A 17-year-old female presents with her mother to the general hospital stating that she has yet to have menses. They report that during the patient’s childhood some genital abnormalities were found, but after appropriate counseling they chose to wait until adolescence “brought some clarification” before taking any further steps in management. Her breasts began to develop at the age of 13.
Her vital signs are 110/65mmHg, temperature is 37.2°C, heart rate is 85 bpm, and respirations are 15/min. Her BMI is 19 kg/m², she lacks pubic and axillary hair, and breasts exhibit Tanner stage IV development. External genitalia examination demonstrates an enlarged clitoris, a rugose labia, and a bifid scrotum but no uterus is found on ultrasound.
This patient’s diagnosis would be best confirmed by which of the following studies?
Correct Answer C:
This patient is a female and is presenting with primary amenorrhea, as she has passed age 16 without menses while having some secondary sexual characteristics present. The differential diagnosis in a phenotypically female patient with absent uterus, breasts, and primary amenorrhea is Mülerian agenesis and androgen insensitivity. Given the description of this patient’s genitalia of a labio-scrotal fusion, an androgen insensitivity grade 3-4 on Quigley scale is more likely (also known as partial androgen insensitivity). The most appropriate studies to confirm the diagnosis would be serum testosterone, dihydrotestosterone, and karyotype (choice C). If the patient has male-appropriate testosterone levels, a diagnosis of androgen insensitivity would be even more likely and this would be finally confirmed with a 46 XY karyotype. On the other hand, if the patient has female-appropriate testosterone levels, a diagnosis of Mülerian agenesis would be likely and this would be confirmed with a 46 XX karyotype.
→ Serum follicle-stimulating hormone (FSH) and karyotype (choice A) is incorrect. Serum FSH should be ordered in the work up of amenorrhea when the uterus is present and pregnancy tests are negative. High FSH levels would suggest conditions such as Turner syndrome, which would be confirmed with karyotype and low FSH would suggest conditions such as Kallman syndrome and would be confirmed with a brain MRI.
→ Serum 17-hydroxyprogesterone and urinary pregnanetriol (choice B) are very significant in the diagnosis of congenital adrenal hyperplasia of 21-hydroxylase deficiency. In addition to ambiguous genitalia, patients with this condition have abnormal blood pressure, potassium, and sodium.
→ MRI urography and follicle-stimulating hormone (choice D) is incorrect. While MRI urography is important in the work up of Müllerian agenesis, at this point, the best studies should also include the possibility of androgen insensitivity. Follicle-stimulating hormone measurements would be the wrong choice.
→ Serum 5-alpha reductase and brain MRI (choice E) is incorrect. While 5-alpha reductase deficiency presents with ambiguous genitalia with some characteristics similar to what is described in this patient, at this point karyotype and serum testosterone levels measurements would be more inclusive in exploring possibilities presented by the differential diagnosis. Brain MRI is clearly the wrong choice in the work up of this patient.
Key point:
A 21-year-old primigravida at 28 weeks gestation complains of the recent onset of itching. On examination she has no obvious rash. The pruritus started on her palms and soles and spread to the rest of her body. Laboratory evaluation reveals elevated serum bile acids and mildly elevated bilirubin and liver enzymes.
The treatment of choice for this patient's condition is:
This patient’s symptoms and laboratory values are most consistent with intrahepatic cholestasis of pregnancy. Ursodeoxycholic acid has been shown to be highly effective in controlling the pruritus and decreased liver function and is safe for mother and fetus.
→ Topical antipruritics and oral antihistamines are not very effective.
→ Some researches showed that phenobarbital relieved pruritus in 50% of patients but showed no reduction of liver enzymes or bile salts.
A 41-year-old woman presents with obesity, hirsutism, and oligomenorrhea.
Which of the following tests will give the least useful information regarding this patient's diagnosis?
Correct Answer B:
Polycystic ovary syndrome (PCOS) is characterized by mild obesity, irregular menses or amenorrhea, and signs of androgen excess (hirsutism, acne). Typically, the ovaries contain multiple cysts. Diagnosis is by pregnancy testing, hormone level measurement, and imaging to exclude a virilizing tumor.
Testing includes pregnancy testing and measurement of serum estradiol, prolactin, and thyroid-stimulating hormone. Diagnosis is confirmed by ultrasonography showing > 10 follicles per ovary; follicles usually occur in the periphery and resemble a string of pearls. If ovarian follicles or hirsutism is present, serum testosterone and dehydroepiandrosterone sulfate (DHEAS) levels are measured.
LH/FSH ratio is more important than LH by itself. The ratio is normally about 1:1 in premenopausal women, but with PCOS a ratio of greater than 2:1 or 3:1 may be considered diagnostic.
PCOS is also associated with peripheral insulin resistance and hyperinsulinemia, and obesity amplifies the degree of both abnormalities, but serum glucose levels will not specifically affect the PCOS diagnosis.
A 29-year-old primagravida presents to your office with a chief complaint of irregular infrequent menses. Over the past few years, she has noted increasing dark hair growth on her chin and above her upper lip. On examination, she is normotensive and moderately overweight. Examination of the skin reveals acne and abdominal striae. The remainder of the examination is normal.
Laboratory Findings:
In addition, a dexamethasone suppression test was normal.
Which one of the following is the most likely diagnosis for this patient?
Polycystic ovarian syndrome (PCOS) is a very heterogeenous syndrome, but is often characterized by signs and symptoms of androgen excess and chronic anovulation (menstrual irregularity, oligo- or amenorrhea). Hirsutism and acne are common presenting signs of hyperandrogenism. Seventy percent of patients are obese, and hyperinsulinemia and insulin resistance are common. LH is usually elevated, but an LH:FSH ratio of 3:1 or greater is a better indicator of PCOS. The FSH is usually normal or mildly low. Serum testosterone and prolactin are often mildly to moderately elevated. DHEA-S levels may be elevated but may also be normal as PCOS is usually related to ovarian androgen production (primarily testosterone). Fasting insulin levels may be high and these patients should be screened for overt diabetes mellitus or glucose intolerance, and hyperlipidemia.
→ Patients with Cushing’s syndrome (choice A) and adult-onset congenital adrenal hyperplasia (CAH) (choice E) may also present with hirsutism, acne, and menstrual abnormalities. However, in this patient a normal dexamethasone suppression test makes Cushing’s syndrome an unlikely diagnosis. 17 hydroxyprogesterone (17 OHP) is a screening test for adult-onset CAH. CAH patients may also have an elevated LH. In contrast, 17 OHP levels are normal in women with PCOS.
→ A virilizing adrenal tumor (choice C) is very unlikely unless mean testosterone measurements are markedly elevated (>150-200 ng/dL). In addition, DHEA-S level s are usually very high (> 700 g/dL). The clinical syndrome usually presents with rapidly progressive hirsutism.
→ Lastly, serum prolactin (choice D) levels are usually very high in women with prolactinomas ( > 200 ng/mL). These patients may present with signs of androgen excess and menstrual irregularity, as well as headache, visual disturbance, and galactorrhea.
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