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A couple of Abstracts
Jan. 22nd, 2006 5:53am

Title
NEW CONCEPTS IN FEMINIZING GENITOPLASTY-IS THE FORTUNOFF FLAP OBSOLETE?
Source
Journal of Urology. 174(6):2350-2353, December 2005.

Purpose: We retrospectively evaluated the results of an original technique that combines mobilization of the urogenital sinus with the creation of urogenital flaps to enlarge the vaginal introitus for 1-stage feminizing genitoplasty in children with urogenital sinus anomalies, thus, avoiding the use of posteriorly based perineal flaps.

Materials and Methods: A total of 11 patients with urogenital sinus anomalies have undergone a modified Fortunoff technique combining total urogenital mobilization with the creation of urogenital sinus flaps by a single surgeon (RG) since 1998. Patient age at surgery ranged from 3 months to 13 years (mean 3.8 years). Diagnoses included congenital adrenal hyperplasia in 7 patients, cloacal malformation in 2 and urogenital sinus malformation in 2. Eight patients underwent a perineal approach and 3 underwent a posterior sagittal approach.

Results: Followup ranged from 3 months to 5 years (mean 2.5 years). The cosmetic appearance was considered superior to that achieved with previous techniques. The vagina had a more physiological position in all patients except 1, and no patient had development of vaginal stenosis. One patient had development of a mild mid urethral stricture that required a single dilation using anesthesia. In this patient cystourethroscopy performed 3 years later was normal.

Conclusions: We believe that the redundant urogenital sinus tissue must not be discarded, but rather incorporated into the reconstruction of the posterior vaginal wall, thus, avoiding the use of perineal skin flaps. This modification allows placement of the vaginal opening in a more physiological position with a better cosmetic appearance than previous techniques.

Copyright (C) 2005 by American Urological Association, Inc.

NEWBORN SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA HAS REDUCED SENSITIVITY IN GIRLS.

Journal of Pediatrics. 147(4):493-498, October 2005.

Authors: VARNESS, TODD S. MD, MPH; ALLEN, DAVID B. MD; HOFFMAN, GARY L. BS
Department of Pediatrics, University of Wisconsin Children's Hospital, Madison, Wisconsin; Wisconsin Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene, Madison, Wisconsin.

Objectives: To characterize Wisconsin-born infants with 21-hydroxylase deficiency-congenital adrenal hyperplasia (21-OH-D-CAH) who were not identified by the newborn screening for 21-OH-D-CAH, and to examine male and female screening 17-hydroxyprogesterone (17-OHP) levels.

Study design: Information on infants with false-negative results was gathered. Results of the Wisconsin newborn screening for 21-OH-D-CAH from January 1, 2000, to June 30, 2003, were analyzed to detect possible differences between male (n = 119,842) and female (n = 114,951) infants.

Results: Six of 7 female infants with false-negative results had genital masculinization, and 4 of 8 infants with false-negative results had laboratory evidence of salt-wasting. None died, had a salt-wasting crisis, or was assigned the wrong sex. A significant difference in the mean 17-OHP levels between male (17.5 ng/mL) and female (15.4 ng/mL) infants (P < .0001) was detected. The sensitivity of newborn screening for female infants was 60%, compared with 80% for male infants.

Conclusions: Male and female infants have significantly different mean 17-OHP levels on newborn screening, and female infants comprise most of the infants with false-negative results. Although health professionals should not assume that newborn screening for 21-OH-D-CAH is a means of identifying all affected infants, the primary goals of newborn screening for CAH (prevention of salt-wasting crises and sex misassignment) are fulfilled.

(C) Mosby-Year Book Inc. 2005. All Rights Reserved.