Visual Diagnosis in Pediatrics
1st Edition

49
Female Genitalia—Variations
Colette C. Mull
Approach to the Problem
Variations in the physical appearance of female genitalia encompass findings within the spectrum of normal, ambiguous genitalia, and abnormalities—congenital or acquired. Although most represent isolated external findings, some are associated with variations in the structure and/or function of other organ systems. Identifying such variations depends on the physical characteristics, the stage of the child’s genital development, the presence of associated symptoms, ongoing parental involvement in the child’s genital care, and the primary care provider’s consistent inclusion of a careful genital examination at every health maintenance visit. Early detection may be imperative (ambiguous genitalia), preferred (imperforate hymen), or inconsequential (normal hymenal variants). In addition, any complaints of abdominal pain, urinary symptoms, perineal/vaginal symptoms, change in bowel habits, and/or sexual maltreatment should prompt the clinician to carefully examine the perineum.
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Figure 49-1 Types of hymens: (A) normal, (B) imperforate, (C) microperforate, (D) cribriform, and (E) septate. (Used with permission from
Emans SJ, Laufer MR, Goldstein DP, eds. Pediatric and adolescent gynecology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2005:10
.)
Figure 49-2 Prepubertal child genitalia. (Used with permission from
Emans SJ, Laufer MR, Goldstein DP, eds. Pediatric and adolescent gynecology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2005:3
.)
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Figure 49-3 Pubertal child genitalia. (Used with permission from
Emans SJ, Laufer MR, Goldstein DP, eds. Pediatric and adolescent gynecology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2005:28
.)
Figure 49-4 Imperforate hymen. (Used with permission from
Emans SJ, Laufer MR, Goldstein DP, eds. Pediatric and adolescent gynecology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2005:plate 21
.)
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Figure 49-5 Hematocolpos. Bluish bulging membrane in a child with primary amenorrhea and lower abdominal pain. (Used with permission from
Fleisher GR, Ludwig S, Baskin MN, eds. Atlas of pediatric emergency medicine. Philadelphia: Lippincott Williams & Wilkins; 2004:145
.)
Figure 49-6 Ambiguous genitalia in a child with congenital adrenal hyperplasia. (Courtesy of Philip Siu, MD.)
Figure 49-7 Labial adhesions. (Used with permission from
Fleisher GR, Ludwig S, Baskin MN, eds. Atlas of pediatric emergency medicine. Philadelphia: Lippincott Williams & Wilkins; 2004:146
.)
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DIAGNOSIS ICD-9 DISTINGUISHING CHARACTERISTICS DURATION CHRONICITY ASSOCIATED FINDINGS COMPLICATIONS PREDISPOSING FACTORS
Normal Genitalia V65.5 Newborn genitalia Findings are related to maternal estrogen effects:
  • Prominent labia majora
  • Thick labia minora
  • Pale pink and moist mucosa
  • Annular or redundant hymen

May see variations (septate, microperforate, cribiform hymen)
Continuum between newborn and prepubertal periods Physiologic leukorrhea
Pseudeomenses
N/A N/A
Prepubertal genitalia Larger labia
Labia minora exposed
Crescentic or posterior rim hymen is common
Mucosa pink-red, less moist
Redundant or fimbriated hymen and annular hymen can be seen
N/A
Pubertal genitalia Labia larger
Hymen thick, elastic, and redundant
Mucosa pale pink and moist
Puberty Physiologic leukorrhea
Onset of menses
N/A Onset of puberty with unopposed estrogen production
Imperforate Hymen 752.42 Shiny membrane between labia
Membrane red/blue of white/yellow and bulging
May present in the newborn period
Less commonly detected in early infancy as hydrocolpos, mucocolpos, or hematocolpos
Often detected in adolescents with menarche as hematocolpos
Primary amenorrhea
Lower abdominal mass
Soft, tender, fluctuant mass on rectal exam
Abdominal distension
Urinary retention
Constipation
Hydronephrosis
N/A
Ambiguous Genitalia 752.7 Female pseudohermaphroditism Variable virilization
Ranges from mild clitoral gland enlargement to “male” phallus and scrotum
Diagnosed at birth Salt loss
Salt retention/hypertension
Testicular and ovarian tissue present: true hermaphroditism
Vascular collapse and death from salt-wasting nephropathy
Gender misassignment
N/A
752.7 Ambiguous genitalia
Male Pseudohermaphroditism
Inadequate virilization
Microphallus, variable hypospadias, chordee, bilateral cryptorchidism, female external genitalia
Salt loss
Salt retention, hypertension
Hypokalemia
Labial Adhesions 752.49 Pale, smooth, avascular line of fusion between labia minora 3 mos—6 yrs N/A Variable genitourinary outflow obstruction
Urinary tract infections
Vulvar inflammation or irritation
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Suggested Readings
American Professional Society on the Abuse of Children. Glossary of terms and the interpretations of findings for child sexual abuse evidentiary examinations. Chicago, IL:APSAC: 1998.
Dickson CA, Saad S, Tesar JD. Imperforate hymen with hematocolpos. Ann Emerg Med. 1985;14:467–469.
Emans SJ, Laufer MR, Goldstein DP, eds. Pediatric and adolescent gynecology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2005:3,10,28.
Fleisher GR, Ludwig S, Baskin MN, eds. Atlas of pediatric emergency medicine. Philadelphia: Lippincott Williams & Wilkins; 2004:145,146.
Murray PJ, Davis HW. Pediatric and adolescent gynecology. In: Zitelli BJ, Davis HW, eds. Atlas of pediatric physical diagnosis. 4th ed. Philadelphia: Mosby; 2002:609–648.
Styne DM, Glaser NS. Endocrinology. In: Behrman RE, Kliegman RM, eds. Nelson essentials of pediatrics. 4th ed. Philadelphia: WB Saunders; 2002:711–766.
Sultan C, Paris F, Jeandel C, et al. Ambiguous genitalia in the newborn: diagnosis, etiology, and sex assignment. Endocr Dev. 2004;7:23–38.
Wall EM, Stone B, Klein BL. Imperforate hymen: a not-so-hidden diagnosis. Am J Emerg Med. 2003;21:249–250.