Surgical treatment of congenital adrenal hyperplasia.
Unraveling of the genetics of CAH offers the possibility of earlier detection and prenatal treatment or, alternatively, blastocyst embryo selection and eventually in utero gene therapy. Endocrine, surgical, and anesthesia management after birth have improved, leading to a better outcome for these patients. In the authors' experience, early one-stage reconstructive surgery, although demanding, allows one to use all available tissue. Once mastered, the repair is actually technically easier than vaginal pull-through surgery in the adolescent. Patients go through childhood with a body image that is more concordant with normal. Neither the child nor the parents must suffer the anticipation of a major operative intervention at puberty that can cause great emotional stress and that may be more difficult. The authors have encountered situations in late adolescence in which it has been impossible to separate the urogenital sinus from below. Under these circumstances, one can consider a posterior sagittal approach in which the rectum is bivalved to allow one to approach the vagina from below in an attempt to separate it safely from the urethra and to mobilize it to the perineum. It is also feasible to consider fashioning a segment of sigmoid colon as a neovagina, realizing that mucosal drainage needs to be managed daily. The authors have also encountered the rare 46,XX patient raised as a male and committed to the male role. In these cases, the patient can be offered gonadectomy, followed by staged complex hypospadias repair, and surgery to remove Müllerian structures and, if possible, to preserve the vas, followed by prepenile scrotal repair and insertion of testicular prostheses. Children with CAH require a lifetime of care with surgical approaches that are age appropriate. These patients can lead a full and productive life. It is the physician's responsibility to make certain that these children reach their full potential with the least number of interventions, which should be designed and optimized to produce the best possible outcome.
Schnitzer
J J
JJ
Pediatric Surgical Services and Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA. schnitzer.jay@mgh.harvard.edu
Donahoe
P K
PK
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D000728:Androgens / Q000096:biosynthesis / Q000172:deficiency; D003937:Diagnosis, Differential; D005260:Female; D005835:Genitalia / Q000601:surgery; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations; D019849:Sex Determination Processes; D012733:Sex Differentiation
D000728:Androgens