17-Hydroxylase Deficiency

Evaluate for 17-hydroxylase/17,20-lyase deficiency in adolescents or adults with delayed puberty or primary amenorrhea accompanied by hypertension, hypokalemia, or other electrolyte imbalance. A reported 46,XX presentation included low cortisol and DHEA-S with elevated LH and FSH; reported 46,XY presentations include hypertension, hypokalemia, sexual infantilism, delayed bone age, and a female social phenotype. ScienceDirectScienceDirectSevere hypertension caused by 17α-hydroxylase deficiency: A case report

The disorder is a rare form of congenital adrenal hyperplasia caused by CYP17A1 variants. CYP17A1 encodes enzymatic activities needed for 17α-hydroxylation and 17,20-lyase conversion in steroidogenesis; impairment can affect one or both activities. The Lancet+3The LancetCongenital adrenal hyperplasiaNatureMolecular Genetics of Steroidogenic Enzyme DeficienciesScienceDirectNovel compound heterozygous CYP17A1 mutations ...WHOMolecular Diagnosis of Congenital Adrenal Hyperplasia in ...

CYP17A1 performs two linked functions: 17α-hydroxylase converts pregnenolone and progesterone to their 17α-hydroxylated derivatives, and 17,20-lyase supports formation of DHEA and androstenedione. DHEA and androstenedione are androgen precursors; therefore, low DHEA-S in the appropriate phenotype supports impaired androgen-pathway flux. dailymed nlm nih+2dailymed nlm nihAKEEGABMJFemale phenotype with male karyotype: a clinical enigmaWHOMolecular Diagnosis of Congenital Adrenal Hyperplasia in ...

Cortisol synthesis requires 17α-hydroxylase activity, whereas sex-steroid synthesis requires both 17α-hydroxylase and 17,20-lyase activity. Thus, combined loss is expected to produce both cortisol deficiency and marked sex-steroid deficiency, while selective residual activity can produce a less complete reproductive phenotype. science+1scienceExpression of Bovine 17α-Hydroxylase Cytochrome P-450 ...ScienceDirectLipoid Congenital Adrenal Hyperplasia - an overview

Use LH and FSH to identify the hypergonadotropic pattern documented in a 46,XX patient with CYP17A1-associated disease. In that setting, a 46,XX karyotype excludes Turner syndrome but does not exclude a steroidogenic cause of pubertal failure; CYP17A1 sequencing established the diagnosis in the reported case. ScienceDirectScienceDirectSevere hypertension caused by 17α-hydroxylase deficiency: A case report

Confirm suspected 17-hydroxylase/17,20-lyase deficiency with molecular testing of CYP17A1. Direct sequencing of CYP17A1 coding regions has been used for molecular diagnosis of congenital adrenal hyperplasia, and case-based diagnosis has been established by identifying pathogenic CYP17A1 variation after biochemical and karyotype evaluation. ScienceDirect+1ScienceDirectSevere hypertension caused by 17α-hydroxylase deficiency: A case reportWHOMolecular Diagnosis of Congenital Adrenal Hyperplasia in ...

Use karyotype selectively but early when the phenotype includes absent puberty, primary amenorrhea, or disorder-of-sex-development features. Both 46,XX and 46,XY phenotypes occur: complete combined deficiency can result in a prepubertal female phenotype without treatment, while 46,XX patients may have chronic anovulation and can develop large cystic ovaries that may hemorrhage. ScienceDirect+1ScienceDirectSevere hypertension caused by 17α-hydroxylase deficiency: A case reportScienceDirectLipoid Congenital Adrenal Hyperplasia - an overview

Do not infer phenotypic severity solely from the diagnostic label. Partial enzymatic defects may permit some secondary sexual characteristics or cyclic menses in 46,XX individuals, whereas complete deficiency produces more profound interruption of cortisol and sex-steroid synthesis. ScienceDirectScienceDirectLipoid Congenital Adrenal Hyperplasia - an overview

At presentation with severe hypertension or hypokalemia, prioritize blood-pressure assessment and electrolyte correction while endocrine testing proceeds; these abnormalities are characteristic reported manifestations and may be present despite a delayed diagnosis. ScienceDirectScienceDirectSevere hypertension caused by 17α-hydroxylase deficiency: A case report

Refer confirmed or strongly suspected cases to an endocrinologist experienced in congenital adrenal hyperplasia and, when applicable, a multidisciplinary disorders-of-sex-development team. The care plan should incorporate cortisol deficiency, sex-steroid deficiency, karyotype-associated reproductive anatomy, and the patient's goals for pubertal induction, hormone replacement, fertility, and gonadal management. The need for sex-hormone replacement in congenital adrenal hyperplasia with 17α-hydroxylase/17,20-lyase deficiency is recognized in pediatric review literature. publications aappublications aapCongenital Adrenal Hyperplasia | Pediatrics In Review

For 46,XX patients, evaluate pelvic anatomy and ovarian status when symptoms, examination, or imaging concern exists, because chronic anovulation in complete disease has been associated with large cystic ovaries that can hemorrhage. ScienceDirectScienceDirectLipoid Congenital Adrenal Hyperplasia - an overview Fertility counseling should be individualized; in vitro fertilization has been reported in this condition. ScienceDirectScienceDirectLipoid Congenital Adrenal Hyperplasia - an overview