Dr. Frank McDermott

The birth of a newborn with ambiguous genitalia presents a diagnostic challenge to the pediatrician. The physicians and staff should avoid announcement of the probable sex and avoid referring to the neonate by personal pronouns. Naming the baby should be delayed by the parents. The pediatrician, endocrinologist, urologist, and psychologist should be involved from the beginning to help determine sex assignment and to give the family support. Assignment of sex and decisions concerning rearing should await until all tests results are known. It should be clearly stated that some time is required to determine if the neonate is a male who is incompletely developed or a female who has undergone virilization. The professionals working with the parents must be consistent in the information that they give to the parents and family members. Crucial in the sex determination is the ability of the genitalia to function sexually in adulthood.

1. Family history
   
   1. previously affected children- CAH is autosomal recessive
      
   2. early death of male sib- CAH may present in males with salt losing and shock
      
   3. excessive number of females in the pedigree who are amenorrheic and childless-testicular feminazation
      
   4. Maternal history of androgen exposure or virilization
      
   5. Maternal history of phenytoin use
      
2. Physical Examination
   
   1. Accurate description of hypospadias, labioscrotal fusion, stretched phallus length and diameter, presence or absence of gonads, their location, and size, perineal anatomy and rectal inspection and examination.
      
   2. Federman's rule- a gonad felt below the inguinal ligament is a testes until proven otherwise and if one or more teste is in the scrotum, the evaluation will be directed toward male pseudohermaphroditism.
      
3. Laboratory evaluation
   
   1. Rapid karyotype
      
   2. if gonads are not palpable, obtain a serum 17-alpha hydroxyprogesterone(17-OHP) because this will be elevated in the most common cause of CAH, 21-hydroxylase deficiency.
      
   3. Ultrasound examination of the pelvis
      
   4. genitogram to determine urethral and/or vaginal structures

Virilized Girl- Female Pseudohermaphrodite

1. Congenital adrenal hyperplasia
   
   1. Once diagnosis is made, hydrocortisone and mineralcorticoids are started. Reconstructive surgery is usually performed by 6 months of life.
      
2. Androgen excess states such as maternal androgen use , oral contraceptives, tamoxifen use, and androgen secreting tumors
   
3. Aromatase deficiency leading to a lack of estrogen and excess of androgens

1. Congenital adrenal hyperplasia (3 beta HSD deficiency or other uncommon deficiencies)
   
2. 5 alpha reductase deficiency
   
3. Androgen insensitivity or receptor defects (testicular feminization)
   
4. Persistent mullerian duct syndrome
   
5. Gonadal dysgenesis
   
6. Testicular regression syndromes
   
7. Evaluation and treatment- after karyotype, steroid levels, and hCG stimulation tests are performed, a testosterone treatment trial is started.

1. Both ovarian and testicular tissue is found in the same individual. May be XX. XY, mosaic or chimerism.

1. Anhalt H, an Hintz R. Ambiguous Genitalia Pediatrics in Review June 1996
   
2. Rosenfield RJ, Lucky AW, Allen TD The diagnosis and management of intersex. Current Problems in Pediattrics. 1980; 10(7)