Berkowitz’s – Section VII: Genitourinary Disorders

Ambiguous Genitalia

Jennifer K. Yee, MD, and Catherine S. Mao, MD
CASE STUDY
A term neonate is being evaluated in the newborn nursery. The mother received prenatal care from the eighth week of gestation, reportedly had no problems during the pregnancy, and took no medications except prenatal vitamins with iron. She specifically denies taking any progesterone-containing drugs. Her previous pregnancy was uneventful, and her 3-year-old son is healthy. On physical examination, the newborn is active and alert, with normal vital signs. Aside from a minimum amount of breast tissue bilaterally, the physical examination is unremarkable, except for the genitalia. The labioscrotal folds are swollen bilaterally with slight hyperpigmentation and mild rugae. No masses are palpable in the labioscrotal folds. The clitoris/phallus is 1.5 cm in length. Labioscrotal fusion is present, with a very small opening at the anterior aspect. The urethra cannot be visualized.
Questions
1. What conditions should be considered in newborns with ambiguous genitalia?
2. What should families of such newborns be told about the gender of the newborns?
3. What key historical information should be obtained from families of such newborns?
4. What laboratory studies must be obtained to aid in the diagnosis?
5. What psychosocial issues should be addressed with families while neonates are in the newborn nursery?

Inguinal Lumps and Bumps

Julie E. Noble, MD
CASE STUDY
A 2-month-old boy presents to your office for evaluation of a lump in his right groin for 1-week duration. The lump has been coming and going, and his mother notices that it is larger when he cries. Today, the lump is prominent, and the infant seems fussy. He has been crying more often and vomited once today. His history is remarkable for having been born at 32 weeks’ gestation by spontaneous vaginal delivery. Birth weight was 1,500 g, and he did well in the nursery with no respiratory complications. He was sent home at 4 weeks of age and has had no other medical problems. He breastfeeds well and has normal stools. Physical examination reveals a well-nourished, irritable infant in no acute distress. His vital signs demonstrate mild tachycardia and temperature to 100°F (37.8°C). His abdomen is soft, and the genitourinary examination is significant for a swelling in the right inguinal area that extends into his scrotum. The mass is mildly tender and cannot be reduced. The rest of the examination is normal.
Questions
1. What are the possible causes of inguinal masses?
2. How does age affect the diagnostic possibilities?
3. How do you differentiate between acute and non-acute conditions?
4. What diagnostic modalities can help with the diagnosis?
5. What are the treatment choices for inguinal masses?
6. Are there long-term consequences?

Hematuria

Elaine S. Kamil, MD
CASE STUDY
A 6-year-old boy is brought to the office for a school entry examination. He was the full-term product of an uncomplicated pregnancy, labor, and delivery. Although he has had 4 or 5 episodes of otitis media, he has generally been in good health. He has never been hospitalized or experienced any significant trauma. He has no known allergies, has been fully immunized, and is developmentally normal. However, his mom reports that he has complained of occasional mild abdominal pain. In addition, the physical examination is completely normal. The boy’s height and weight are at the 75th percentile, and his blood pressure is 100/64 mm Hg. Screening tests for hearing and vision are completely normal. The boy’s hematocrit is 42. His urinalysis comes back with
a specific gravity of 1.025, pH 6, 21 blood, and trace protein. Microscopic examination shows 18 to 20 red blood cells per high-power field; 0 to 1 white blood cells per high-power field; and a rare, fine, granular cast.
Questions
1. What disease entities cause hematuria?
2. How should hematuria be evaluated?
3. How does the approach to hematuria differ in children who complain of dark or red urine?
4. What is the appropriate follow-up of children with asymptomatic microscopic hematuria?

Proteinuria

Elaine S. Kamil, MD
CASE STUDY
A 14-year-old boy is brought to the office for a preparticipation sports physical examination. He has been previously healthy but had one hospital admission at the age of 2 years for treatment of a fractured humerus. He has no acute complaints. The family history is positive for diabetes mellitus in the paternal grandfather and lung cancer in the maternal grandfather. It is negative for renal disease or hypertension. The boy’s height and weight are at the 75th percentile for age, and his blood pressure is 110/70 mm Hg. On physical examination he is a well-developed, wellnourished, athletic teenager. No abnormal findings are present. The complete blood cell count reveals a hemoglobin of 14.8 g/dL, a hematocrit of 48.3%, and a white blood cell (WBC) count of 8,400/mm3 with a normal differential. The urine has a pH of 5, a specific gravity of 1.025, and 31 protein on dipstick. The rest of the dipstick is negative. Microscopic examination shows 0 to 1 WBC count per highpower field and 0 to 2 hyaline casts per low-power field.
Questions
1. What conditions cause proteinuria?
2. When should children with proteinuria undergo further evaluation?
3. What type of evaluation should be carried out to assess proteinuria?
4. When should children with proteinuria be referred to a pediatric nephrologist?

Urinary Tract Infections

Gangadarshni Chandramohan, MD, MS, and Sudhir K. Anand, MD
CASE STUDY
A 2-year-old girl is brought to the office with a 1-day history of fever (temperature 103°F [39.4°C]), vomiting, and mild diarrhea. There was no history of any change in her urinary habits and she still wears diapers. The child has been somewhat irritable but fully alert. Physical examination reveals an ill-appearing toddler. Her temperature is 102.6°F (39.2°C), heart rate is 122 bpm, respiratory rate is 30 breaths per minute, and blood pressure is 90/60 mm Hg. The neck is supple. Head, eye, ear, nose, throat, chest, heart, abdominal, and genital examinations are normal. Urinalysis shows specific gravity 1.025, pH 6.0, leukocyte esterase and nitrite both strongly positive, protein trace, and blood trace; the sediment has 15 to 20 white blood cells and 2 to 4 red blood cells per high-power field. The Gram stain shows more than 100,000 gram-negative rods, and the urine culture result is pending.
Questions
1. What are the possible diagnoses of children with positive leukocyte esterase or nitrite on urinalysis?
2. What are the indications for hospital admission of children with urinary tract infections (UTIs)?
3. What antibiotics are used in the treatment of UTIs?
4. What is the appropriate diagnostic workup for children with suspected UTIs? When are renal ultrasound, technetium Tc 99m succimer renal scan, and voiding cystourethrogram included in the evaluation?
5. If workup reveals vesicoureteral reflux, how should children be managed over the long term?

Vaginitis

Monica Sifuentes, MD
CASE STUDY
An 11-year-old girl is brought to your office with vaginal itching for 1 week and a yellow discharge on her underwear for the past 4 days. The girl reports no associated abdominal pain, vomiting, or diarrhea. She has no urinary problems and also denies any history of sexual abuse. Although she occasionally bathes with bubble bath, she most often takes showers. Except for the vaginal complaint, she is healthy, and she takes no medications. The physical examination is notable for a soft, nontender abdomen with no organomegaly. Bowel sounds are audible in all quadrants. The genitalia are sexual maturity rating (Tanner stage) 2. The labia majora and minora and the clitoris all appear normal, and the hymen is annular in shape with a smooth rim. A scant amount of yellow discharge, along with minimal perihymenal injection, is noted at the vaginal introitus. The anal examination is normal, with an intact anal wink.
Questions
1. What are the most common causes for vaginal discharge in prepubescent and pubescent girls? How do they differ?
2. What basic historical information must be obtained from all females whose chief complaint is vaginal discharge?
3. What specific methods are used to perform a gynecologic examination in prepubescent and pubescent girls?
4. What is the appropriate laboratory evaluation for prepubescent and pubescent girls who complain of vaginal discharge? How does this evaluation differ for pubescent girls who are sexually active?
5. What are the various treatment options for girls with vaginitis?

Sexually Transmitted Infections

Monica Sifuentes, MD
CASE STUDY
A 17-year-old male presents with a small red lesion on the tip of his penis. He noticed an area of erythema a few weeks before, but it resolved spontaneously. He reports no fever, myalgia, headache, dysuria, or urethral discharge. He is sexually active and occasionally uses condoms. He did not use a condom during his last sexual encounter 2 weeks ago, however, because his partner uses oral contraception. The adolescent has never been treated for any sexually transmitted infections (STIs) and is otherwise healthy. His partners are exclusively female. On examination, he is a sexual maturity rating (Tanner stage) 4 circumcised male with a 2- to 3-mm vesicle on the glans penis. Minimal erythema is present at the base of the lesion, and there is no urethral discharge. The testicles are descended bilaterally, and no masses are palpable. Bilateral shotty, non-tender, inguinal adenopathy is evident.
Questions
1. What conditions are associated with vesicles in the genital area?
2. What risk factors are associated with the acquisition of STIs during adolescence?
3. What screening tests should be performed in patients with suspected STIs?
4. What recommendations regarding partners of patients with STIs should be given?
5. What issues of confidentiality are important to address with adolescents who desire treatment for STIs?

Menstrual Disorders

Monica Sifuentes, MD
CASE STUDY
A 16-year-old girl presents with a 9-day history of vaginal bleeding. She has no history of abdominal pain, nausea, vomiting, fever, dysuria, or anorexia, and she reports no dizziness or syncope. Her menses usually last 4 to 5 days and, in general, occur monthly. Her last menstrual period was 3 weeks ago and was normal in duration and flow. Menarche occurred at 14 years of age. She is sexually active, has had 2 partners, and reportedly uses condoms “most of the time.” Neither she nor her current partner has ever been diagnosed with or treated for a sexually transmitted  infection (STI). She has no family history of blood dyscrasia or cancer and no history of chronic illness and takes no medications. On physical examination, she is in no acute distress. Her temperature is 98.4°F (36.9°C). Her heart rate is 100 beats/ min, and her blood pressure is 110/60 mm Hg. Her body mass index is at the 50th percentile. The physical examination, including a pelvic examination, is unremarkable except for minimal blood noted at the vaginal introitus.
Questions
1. What menstrual disorders commonly affect adolescent girls?
2. What factors contribute to the development of menstrual disorders, particularly during adolescence?
3. What relevant history should be obtained in adolescents with menstrual or pelvic complaints?
4. What treatment options are currently available for primary dysmenorrhea?
5. What conditions must be considered in adolescents with abnormal vaginal bleeding?
6. How is abnormal uterine bleeding managed in adolescent patients?

Disorders of the Breast

Monica Sifuentes, MD
CASE STUDY
A 2-year-old girl is brought to the office for bilateral breast swelling first noticed 3 weeks ago by her mother. The swelling is non-tender and does not appear to be increasing in size. There is no history of galactorrhea. The child is otherwise healthy, takes no medications, and is not using any estrogen-containing creams or other products. On physical examination, vital signs are normal, and the child is at the 50th percentile for height and weight. A 1.5-cm, firm, non-tender mass is palpated below her left nipple. Below the right nipple, a 1-cm, non-tender mass of similar consistency is present. There is no discharge from either nipple and no areolar widening. The abdomen is soft with no masses palpated. The genitalia are those of a normal prepubescent female with no pubic hair and  vaginal mucosa that appears red and not estrogenized.
Questions
1. What is premature thelarche, and how can it be differentiated from true precocious puberty?
2. What are the most common causes of breast hypertrophy in the infant?
3. When does pubertal breast development normally occur in females?
4. What are the most common causes of breast masses in adolescent females and how should they be managed?
5. How can physiologic pubertal gynecomastia be differentiated from pathologic causes of gynecomastia in adolescent males?