Although the diagnosis is not usually obvious on examination, there are some helpful distinguishing features (Fig. 29.23). In normal boys, there is only a single midline frenulum on the ventral side of the phallus; in normal girls, there are two frenula lateral to the mid-line. A girl with clitoral enlargement still has two frenula, and a boy with hypospadias has a single midline frenulum or several irregular fibrous bands (chordee). It is important to determine whether any m¨ullerian derivatives are present. Studies suggest that MRI may be the most effective way of evaluating the infant for the presence of m¨ullerian tissue (101).
The location or consistency of the gonad may be helpful in deducing its composition. A gonad located in the labial or inguinal regions almost always contains testicular tissue. A testis is generally softer than an ovary or a streak gonad and is more apt to be surrounded by blood vessels imparting a reddish cast. An ovary is more often white, fibrous, and convoluted. A gonad that varies in consistency may be an ovotestis or a testis or a streak gonad that underwent neoplastic transformation. If a well-differentiated fallopian tube is absent on only one side, the side without the tube probably contains a testis or ovotestis.
The fact that there is uncertainty about the sex of one’s baby is devastating and incomprehensible for most parents. Parents require reassurance that either a male or female gender will be assigned ultimately. Optimum clinical management should comprise of the following (67): 1.
Gender assignment must be avoided before expert evaluation of newborns.
2.
Evaluation and long-term management must be performed at a center with an experienced multidisciplinary team (pediatric endocrinologist, pediatric urologist, geneticist, clinical psychologist, and gynecologist).
3.
All individuals should receive a gender assignment after appropriate assessment.
4.
Open communication with patients and families is essential, and participation in decision making should be encouraged.
5.
Patient and family concerns should be respected and addressed in strict confidence.
First-line testing in newborns includes: 1.
Karyotyping with X-and Y-specific probe detection (even when prenatal karyotype is available) 2.
Measurement of serum 17-hydroprogesterone, testosterone, gonadotropins, antim¨ullerian hormone, and electrolytes 3.
Abdominopelvic ultrasound (to assess anatomy of the vagina, uterus, or urogenital sinus, exclude renal anomalies, and locate any inguinal gonads) 4.
Urinalysis (to check for protein as a screen for any associated renal anomaly)
The results of these investigations are generally available within 48 hours and sufficient to develop a working diagnosis. If needed, additional testing may include (102): 1.
Human chorionic gonadotropin-and adrenocorticotropin-stimulation tests to assess testicular and adrenal steroid biosynthesis 2.
3.
4.
Biopsies of gonadal material 5.
Although genital ambiguity is usually identified at birth, it may not be recognized for several years. Questions about changing the sex-of-rearing may arise. It was believed that sexof-rearing may be changed before 2 years of age without psychologically damaging the child, but experience with individuals with 5α-reductase deficiency suggests that gender changes may be made after 2 years of age in certain instances (103). In any case, surgery for genital ambiguity to make the external genitalia (and development) as compatible with the sex-of-rearing of the child is warranted but was not always successful. Clitoral recession and clitorectomy are the most frequently performed surgical procedures.