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Congenital Adrenal Hyperplasias

Endocrinology and Metabolism Clinics of North America, 1991
The congenital adrenal hyperplasias (CAH) are a very common group of genetic disorders of steroid hormone synthesis. The genes encoding each of the steroid biosynthetic enzymes have now been cloned, and the mutations in these genes that cause the various forms of CAH are being determined. The emerging picture is substantially different from traditional
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OESTROGENS IN CONGENITAL ADRENAL HYPERPLASIA

Acta Endocrinologica, 1967
ABSTRACT Urinary oestrogen excretion was studied in 11 subjects with congenital adrenal hyperplasia, including 7 children and 3 castrates. Oestrogen excretion was significantly elevated in older children and adults, and could be decreased by adrenal suppression with steroids.
Joseph W. Goldzieher, F. G. Boyd
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Nonclassic congenital adrenal hyperplasia

Current Opinion in Endocrinology, Diabetes & Obesity, 2012
Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess.
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Mineralocorticoids in congenital adrenal hyperplasia

The Journal of Steroid Biochemistry and Molecular Biology, 1991
While hypertension is observed in only two of the three major subtypes of congenital adrenal hyperplasia (CAH), 11 beta- and 17 alpha-hydroxylase deficiencies, deoxycorticosterone (DOC) production is increased in all. The elevated zona fasciculata (ZF) DOC produces mineralocorticoid hypertension with suppressed renin and reduced potassium ...
Biglieri, E. G., Kater, C. E.
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DEATHS IN CONGENITAL ADRENAL HYPERPLASIA

Pediatrics, 1962
Since the advent of cortisone for treatment of congenital adrenal hyperplasia, eight patients have died, representing a mortality of approximately 8%. These cases are presented, with an analysis of the findings in an attempt to explain the cause of death.
W W, CLEVELAND, O C, GREEN, L, WILKINS
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Pregnancy in Congenital Adrenal Hyperplasia

Endocrinology and Metabolism Clinics of North America, 2019
Fertility rates in classic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency are substantially decreased for various reasons, including hormonal, anatomic, psychosocial, and psychosexual causes. However, fecundity is comparable with the general population. Under optimal hormone replacement, the course and outcome of pregnancies is also
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Congenital Virilizing Adrenal Hyperplasia

Archives of Pediatrics & Adolescent Medicine, 1960
In the past several years, great strides have been made in the elucidation of certain inborn defects in steroid metabolism. This has led to a better understanding of the pathophysiology of congenital virilizing adrenal hyperplasia and has given us a more rational approach to the treatment of this disorder.
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Androgens in Congenital Adrenal Hyperplasia

2019
Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health. The majority of CAH cases is due to a deficiency in 21-hydroxylase as a result of the existence of mutations in both alleles of the CYP21A2 gene. Since the identification of mild, non-classic forms
Duarte, Pignatelli   +2 more
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Congenital adrenal hyperplasia in adults

Current Opinion in Endocrinology, Diabetes & Obesity, 2010
Patients born with congenital adrenal hyperplasia (CAH), the majority of which is 21-hydroxylase deficiency (21OHD), have been studied by pediatric endocrinologists for decades and treated successfully since the pioneering work of Lawson Wilkins. As is the case for other previously fatal diseases of childhood, such as type 1 diabetes mellitus and ...
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Phalloplasty in Congenital Adrenal Hyperplasia

Journal of Urology, 1982
Abstract The Allen-Spence technique for phalloplasty, emphasizing corporeal enucleation with preservation of the glans, was done in 11 patients. The surgical details are presented. The cosmetic and functional advantages of the technique are discussed, with particular emphasis on 2 patients who have been sexually active before and after surgery.
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