CAH refers to a group of disorders that manifests with varying degrees of physical stigmata including virilization of female patients. In other words, the females born with this disease exhibit varying degrees of masculinzation of their genitalia. The degree of stigmata differs according to the underlying enzyme deficit altering cortisol formation in the adrenal gland. The most commonly encountered defect is of the 21-hydroxylase enzyme. Our attention will be focused on the surgical management of the virilized female with 21-hydroxylase deficiency since this is the most common type of CAH patient encountered.
Surgical treatment of infants born with ambiguous genitalia has evolved continuously since Hendron and Crawford described the management of Adrenogenital syndrome in 1969. Several types of repair exist. The exact method of reconstruction depends on the anatomy of the patient. When a child is born with ambiguous genitalia, a multidisciplinary approach to diagnosis and management is essential because the clinical issues presented have much social and medical significance. Urologic and endocrine consults should be obtained immediately. The actual gender assignment must be reserved until adequate biochemical and anatomical information is obtained.
Disorders of sexual development can be classified into three major categories based on etiology. The first group is gonadal dysmorphogenesis. This group includes pure gonadal dysgenesis, mixed gonadal dysgenesis, and true hermaphroditism.
The second group is undervirilized males also referred to as male pseudohermaphrodites. This category encompasses defects in testosterone synthesis, androgen resistance sydromes, and 5-alpha reductase deficits.
The third group is our primary focus, virilized females. This group includes congenital adrenal hyperplasia, maternal virilization disorders, and iatrogenic etiologies such as in utero exposure to progestins, and androgens.
During evaluation of the child born with ambiguous genitalia, the first step is to look for any maternal illnesses or possible exposure to hormones in utero. A family history should be obtained directed toward relatives with genital anomalies, infant deaths, lack of menstruation, or infertility. A thorough physical exam is important as well as radiologic studies. Ultrasonography by an experienced sonographer is often employed to visualize the presence of female reproductive organs. It is important to establish the exact location of the vagina in relation to the bladder.
Certain hormonal and electrolyte studies are crucial in establishing the diagnosis.
Greater than 70% of patients with a disorder of sexual development are identified as virilized females with Congenital Adrenal Hyperplasia (CAH); three quarters of these patients have a 21-hydroxylase deficiency. Fortunately, when medical and surgical evaluation are carried out properly, these children are afforded an excellent potential for normal female sexual and reproductive health.