Authors’ Response: Regarding the Consensus Statement on 21-Hydroxylase Deficiency from the Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology

Walter L. Miller, Sharon E. Oberfield, Phyllis W. Speiser, Laurence S. Baskin, Patricia K. Donahoe, Claire N-Fekete, John M. Hutson and Dix Phillip Poppas

University of California (W.L.M., L.S.B.), San Francisco, California; Columbia University, College of Physicians and Surgeons (S.E.O.), New York, New York; Long Island Jewish Hospital (P.W.S.), New York, New York; Massachusetts General Hospital (P.K.D.), Boston, Massachusetts; Hôpital des Enfants Malades (C.N.-F.), Paris, France; Royal Children’s Hospital (J.M.H.), Parkville, Australia; and Children’s Hospital of New York Presbyterian (D.P.P.), Weill Medical College of Cornell University, New York, New York.

Address correspondence to: Walter L. Miller, M.D., Department of Pediatrics, University of California, San Francisco, Building MR-IV, Room 205, San Francisco, California 94143-0978.

To the editor:

We thank Dr. Sarah Creighton and her colleagues for their views concerning the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology, which was published in the September 2002 issue of the JCEM (1). The consensus statement was prepared by a group of 40 endocrinologists, psychologists, and surgeons concerned with the management of congenital adrenal hyperplasia (CAH), representing 35 institutions in 12 countries on four continents. This highly qualified and diverse group, which included one of the signatories to Dr. Creighton’s letter, represented a broad range of views and experience.

We disagree with the assertion that the guidelines concerning surgical management and psychology are misleading, and we strongly disagree that they might be detrimental to patient care. Dr. Creighton’s letter refers to "increasing concern from Intersex consumer groups." These groups primarily represent the experience of women with disorders other than CAH, primarily androgen insensitivity; many of these women were subjected to ill-advised mutilating surgery by inexperienced surgeons. By contrast, the consensus statement deals only with 21-hydroxylase deficiency and emphasizes focusing surgical care in the hands of a small number of highly experienced surgeons. Whereas the care of patients with ambiguous genitalia who do not have CAH may be controversial, there should be little controversy regarding CAH patients who are 46,XX with normal female internal structures and variable masculinization of the external genitalia. Only a small number of these patients are extremely masculinized.

Although there are few studies of long-term outcome showing that improvement of genital appearance improves psychological or pschosexual outcome or promotes a stable gender identity, competent surgery can provide an excellent outcome in the most severely affected children (2) and is compatible with normal reproductive function (3). Therefore, we believe that it is cruel to leave children in a state of gender uncertainty until "they can participate in an informed consent," particularly in this disorder. While a third sex may be acceptable in some cultures, we believe that it is not so in either North America or Western Europe. Body image, while growing up, particularly through stormy adolescence, is very important to confidence and identity of self.

It is also true that surgery can result in urinary infections and fistula and that clitoral surgery may damage sexual function. The decision to reduce clitoral size is not taken lightly, and every precaution is made to preserve the nerve supply and, hence, sexual function (4). As emphasized in the consensus statement, if highly experienced surgeons do these procedures, the incidence of such complications is low.

The decision for surgery is made jointly among parents, surgeons, and endocrinologists. Most surgeons inform the parent that simple revision or introitoplasty will probably be needed at adolescence. However, revision surgery is far simpler than having to do the entire pull through at adolescence, because the distance from the urogenital sinus to the perineum has elongated with growth. We agree that a dedicated multidisciplinary team is needed to address each individual case and that the affected families should participate fully. This indeed was recommended in the consensus statement.

We agree that outcome data are exceedingly important, but they must be based on present, improved techniques, by experienced pediatric surgeons or urologists, not on those used three decades ago. We suggest careful follow-up of all surgically reconstructed patients and urge a National Institutes of Health-funded long-term outcomes study of CAH patients.

Received April 11, 2003.

References

  1. Joint LWPES/ESPE CAH Working Group (Writing Committee: Clayton PE, Miller WL, Oberfield SE, Ritzín EM, Sippell WG, Speiser PW) 2002 Consensus statement on 21-hydroxylase deficiency from The Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology. J Clin Endocrinol Metab 87:4048–4053[Free Full Text]
  2. Woelfele J, Hoepffener W, Sippell WG, Brämswig JH, Heidemann P, Deiss D, Bökenkamp A, Roth C, Irle U, Wollmann HA, Zachmann M, Kubini K., Albers N 2002 Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications. Clin Endocrinol 56:231–238[CrossRef][Medline]
  3. Lo JC, Grumbach MM 2001 Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia. Endocrinol Metab Clin North Am 30:207–229[Medline]
  4. Baskin LS, Erol A, Li YW, Liu WH, Kurzrok E, Cunha G R 1999 Anatomical studies of the human clitoris. J Urol 162:1015–1020[Medline]




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