By Maria I. New M. D., Lenore S. Levine M. D. (auth.)

ISBN-10: 3642820115

ISBN-13: 9783642820113

ISBN-10: 3642820131

ISBN-13: 9783642820137

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Extra resources for Congenital Adrenal Hyperplasia

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Society sees phenotype, not genotype. In assigning a sex of rearing to a male or female pseudohermaphrodite, the genetic sex is of less consequence than the physiologic and anatomic character of the genitalia and their potential for development and function. Because of the wide variation in the presentation of ambiguous genitalia in these patients, there can be no allinclusive rules for sex assignment based solely on genetic sex or type of enzyme deficiency. 6 Pubertal Development A. 21-Hydroxylase Deficiency In most patients treated satisfactorily from early life, the onset of puberty in both females and males with classical CAH occurs at the expected chronological age (John and Verkauf 1971; Ghali et al.

1957; Newmark et al. 1977; Rosenwaks et al. 1979; Bouchard et al. 1981 ; B. Kohn et al. 1982; Lee et al. 1982). The asymptomatic form of nonclassical 21-hydroxylase deficiency was first described as "cryptic" 21-hydroxylase deficiency among family members of patients with classical 21-hydroxylase deficiency. , virilization, abnormal puberty and growth, and infertility) are absent, although the biochemical 'profiles are characteristic of 21-hydroxylase deficiency (Levine et al. 1980c, 1981; Zachmann and Prader 1978, 1979).

No mention is made of pubertal development, if any; it will be interesting to see if he also develops gynecomastia, similar to other males with prenatal testosterone deficiency. F. Corticosterone Methyloxidase Deficiency: Types I and II Normal puberty occurs in these disorders, since sex steroid synthesis is not disturbed. 17,20-Lyase Deficiency 43 G. 17 p-Hydroxysteroid Dehydrogenase Deficiency At puberty, genetic males develop signs of virilization, probably due to peripheral conversion of d 4 to testosterone.

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Congenital Adrenal Hyperplasia by Maria I. New M. D., Lenore S. Levine M. D. (auth.)

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