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PubMed · 6854746

Feminizing genitoplasty: a synthesis.

H M Snyder·A B Retik·S B Bauer·A H Colodny
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Abstract

The female child with the adrenogenital syndrome is subject to a variable degree of masculinization. Surgery should be directed to 3 goals: 1) removing the corpora and preserving the glans with its innervation to create a clitoris with normal sensation, 2) creating a normal-appearing introitus by fashioning labia minora from phallic skin and foreskin, and 3) vaginoplasty to provide an adequate opening for the vagina onto the perineum. The entire repair may be completed before the age of 6 months unless the vagina enters the urogenital sinus at a high level in which case vaginoplasty should be delayed until the child is older. The evolution of this operative approach is described and the details of the operative technique are presented.

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Adrenal Hyperplasia, CongenitalFemaleGenitalia, FemaleHumansInfantSurgery, PlasticVaginaVulvaJournal Article

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BibTeXRIS

H M Snyder, A B Retik, S B Bauer, A H Colodny. 1983. Feminizing genitoplasty: a synthesis.. https://doi.org/10.1016/s0022-5347(17)52525-2

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PubMed2007

How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?

BACKGROUND/AIMS: Congenital adrenal hyperplasia (CAH) is increasingly being included in newborn screening programs. Screening can prevent neonatal mortality in children with salt-wasting CAH, but the number of deaths prevented is not known. Cost-effectiveness analyses of screening require estimates of the probability of mortality in CAH. METHODS: We reviewed the literature to identify cohort studies of children with CAH ascertained clinically in the absence of screening. We abstracted the numbers of infant deaths attributable to CAH. We also addressed sex ratios among children with clinically detected CAH and the contribution of ascertainment bias to unbalanced ratios. RESULTS: The evidence suggests a probability of infant death due to adrenal crises in salt-wasting CAH of 4% or less in contemporary advanced economies without screening for CAH. This is lower than previous estimates, although the rate of mortality could be considerably higher in populations with limited clinical awareness or access. CONCLUSION: Although screening for CAH is conducted in a number of countries, further research is still needed to provide reliable estimates on the numbers of prevented deaths, along with evidence-based assessments of the potential benefits, harms, and costs of screening.

Adrenal Hyperplasia, Congenital↗
PubMed2007

Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

CONTEXT: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a tendency for obesity, high insulin, and high 24-h blood pressure levels has been reported in children and adolescents. Increased intima-media thickness (IMT) is considered a measure of subclinical atherosclerosis and a predictor of myocardial infarction and stroke. OBJECTIVE: The objective of the study was to evaluate glucose metabolism, lipid profile, IMT of the abdominal aorta, right and left common carotids, carotid bulbs, and common femoral arteries in adult CAH patients. SUBJECTS: Nineteen (10 females, nine males; 28 +/- 3.5 yr) patients (12 salt wasting and seven simple virilizing) and 19 (10 females, nine males) healthy subjects matched for anthropometric parameters (age, sex, body mass index, smoking habit, waist to hip ratio, and blood pressure). METHODS: Glucose metabolism was studied using the oral glucose tolerance test and the homeostasis model assessment-insulin resistance. The echo-Doppler was used for arterial ultrasound. 17-Hydroxyprogesterone, androstenedione, testosterone, ACTH, plasma renin activity, total and high-density lipoprotein cholesterol, and triglycerides were measured. RESULTS: CAH patients had significantly higher fasting plasma insulin (11.6 +/- 6.20 microU/ml vs 5.18 +/- 2.4 microU/ml; P < 0.0001) and homeostasis model assessment-insulin resistance than controls (2.46 +/- 1.92 vs 1.12 +/- 0.58; P = 0.0033). IMT of the studied arteries was higher in CAH patients than controls. There was no correlation between IMT and cumulative glucocorticoid doses and androgen levels. CONCLUSION: A reduced insulin sensitivity and increased IMT were demonstrated in adults with CAH, who consequently need a follow-up for cardiovascular risk.

Adrenal Hyperplasia, Congenital↗