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Chapter 533. Genetic Lesions in Steroidogenesis

Walter L. Miller

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    AMA Citation
    Miller WL. Miller W.L. Miller, Walter L.Chapter 533. Genetic Lesions in Steroidogenesis. In: Rudolph CD, Rudolph AM, Lister GE, First LR, Gershon AA. Rudolph C.D., Rudolph A.M., Lister G.E., First L.R., Gershon A.A. Eds. Colin D. Rudolph, et al.eds. Rudolph's Pediatrics, 22e New York, NY: McGraw-Hill; 2011. http://accesspediatrics.mhmedical.com/content.aspx?bookid=455&sectionid=40310869. Accessed April 23, 2019.
    MLA Citation
    Miller WL. Miller W.L. Miller, Walter L.. "Chapter 533. Genetic Lesions in Steroidogenesis." Rudolph's Pediatrics, 22e Rudolph CD, Rudolph AM, Lister GE, First LR, Gershon AA. Rudolph C.D., Rudolph A.M., Lister G.E., First L.R., Gershon A.A. Eds. Colin D. Rudolph, et al. New York, NY: McGraw-Hill, 2011, http://accesspediatrics.mhmedical.com/content.aspx?bookid=455&sectionid=40310869.

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The key clinical, laboratory, and therapeutic features of the common forms of congenital adrenal hyperplasia (CAH) are discussed in this chapter. Manifestations of a deficiency of each enzyme in the pathway, including the clinical presentation, laboratory findings, and therapeutic measures, are shown in Table 533-1. Because each steroidogenic enzyme has multiple activities and many extra adrenal tissues contain enzymes that have similar activities, the complete elimination of a specific adrenal enzyme may not result in the complete elimination of its steroidal products from the circulation.

Table 533-1. Clinical and Laboratory Findings and Therapeutic Measures in the Congenital Adrenal Hyperplasias
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Table 533-1. Clinical and Laboratory Findings and Therapeutic Measures in the Congenital Adrenal Hyperplasias
Enzyme DeficiencyPresentationLaboratory FindingsTherapeutic Measures
Lipoid CAH (StAR or P450scc)Salt-wasting crisisLow/absent levels of all steroid hormonesGlucocorticoid and mineralocorticoid replacement, salt supplementation
Male pseudohermaphroditismDecreased/absent response to ACTH
Decreased/absent response to hCG in male pseudohermaphroditismEstrogen replacement at age Å  12 years
Gonadectomy of male pseudohermaphrodite and salt supplementation
↑ ACTH and PRA
3β-HSDSalt-wasting crisis↑δ5 Steroids before and after ACTHGlucocorticoid and mineralocorticoid replacement
Male and female pseudohermaphroditism↑Δ5/Δ4 Serum steroidsSalt supplementation
Suppression of elevated adrenal steroids after glucocorticoid administrationSurgical correction of genitalia
Sex hormone replacement as necessary
↑ ACTH and PRA
P450c17Male pseudohermaphroditism↑ DOC, 18-OHDOC, corticosterone, 18-hydroxycorticosteroneGlucocorticoid administration
Sexual infantilismSurgical correction of genitalia and sex steroid replacement in male pseudohermaphroditism consistent with sex of rearing
HypertensionLow 17α-hydroxylated steroids and poor response to ACTH
Poor response to hCG in male pseudohermaphroditismEstrogen replacement in female at Å  12 years
Testosterone replacement if reared as male (rare)
Suppression of elevated adrenal steroids after glucocorticoid administration
↑ ACTH and ↓ PRA; Hypokalemia
P450c21Classic form:↑ 17OHP before and after ACTHGlucocorticoid and mineralocorticoid replacement
Salt-wasting crisis. female, pseudohermaphroditism↑ Serum androgens and urine 17KSSalt supplementation
Suppression of elevated adrenal steroids after glucocorticoid RxSurgical repair of female pseudohermaphroditism
Pre- and postnatal virilization
Nonclassic form:↑ ACTH and PRA
Premature adrenarche, menstrual irregularity, hirsutism, acne, infertility
P450c11Female pseudohermaphroditism↑ 11-Deoxycortisol and DOC before and after ACTHGlucocorticoid administration
Postnatal virilization in males and females↑ Serum androgens and urine 17KSSurgical repair of female pseudohermaphroditism
Suppression of elevated steroids after glucocorticoid administration
↑ ACTH and ↓ PRA; Hypokalemia
P450c11ASFailure to thriveHyponatremia, hyperkalemiaMineralocorticoid replacement
Weakness↑ CorticosteroneSalt supplementation
Salt loss↓ Aldosterone ↑ PRA
P450c17Male pseudohermaphroditism↑ DOC, 18-OHDOC, corticosterone, 18-hydroxycorticosteroneGlucocorticoid administration
Sexual infantilismSurgical correction of genitalia and sex steroid replacement in male pseudohermaphroditism consistent with sex of rearing
HypertensionLow 17α-hydroxylated steroids and poor response to ACTH
Poor response to hCG in male pseudohermaphroditismEstrogen replacement in female at > 12 years
Testosterone replacement if reared as male (rare)
Suppression of elevated adrenal steroids after glucocorticoid administration
↑ ACTH and ↓ PRA; Hypokalemia
PORMale & female ...

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