17α-Hydroxylase/17, 20-Lyase Deficiency: Clinical and Molecular Characterization of Eight Chinese Patients

Wu, Chunping; Fan, Shanshan; Qian, Yu; Zhou, Yingying; Jin, Jian; Dai, Zhijuan; Jiang, Ling

doi:10.4158/ep161610.or

Cited by 19 publications

(22 citation statements)

References 23 publications

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“…Like aldosterone, 11-deoxycorticosterone has a mineralocorticoid effect, inducing sodium and fluid retention and loss of potassium 3. In 17-OH deficiency, female patients have normal genitalia but show immature sexual development and typically present with primary amenorrhea 2 5 7 8. Hypertension with hypokalemia are also common, but may be absent in the time of diagnosis 1 5 9.…”

Section: Discussionmentioning

confidence: 99%

“…In 17-OH deficiency, female patients have normal genitalia but show immature sexual development and typically present with primary amenorrhea 2 5 7 8. Hypertension with hypokalemia are also common, but may be absent in the time of diagnosis 1 5 9. This is a complex syndrome, since 17-OH deficiency can be classified into ‘complete’ and ‘partial’ type and patients with partial deficiency have a certain degree of functional enzymatic activity causing a less severe oestrogenic and androgenic deficit 5.…”

Section: Discussionmentioning

confidence: 99%

“…Hypertension with hypokalemia are also common, but may be absent in the time of diagnosis 1 5 9. This is a complex syndrome, since 17-OH deficiency can be classified into ‘complete’ and ‘partial’ type and patients with partial deficiency have a certain degree of functional enzymatic activity causing a less severe oestrogenic and androgenic deficit 5. Thus, spontaneous breast and pubic hair development occurs, with various degrees of development.…”

Section: Discussionmentioning

confidence: 99%

“…Thus, spontaneous breast and pubic hair development occurs, with various degrees of development. Oligomenorrhea or secondary amenorrhea is common and recurrent ovarian cysts are a specific characteristic of 46, XX partial deficiency 5 10. Additionally, most but not all patients with partial 17-OH deficiency have hypertension and hypokalemia5 and it seems that its late onset is suggestive of a milder defect 9.…”

Section: Discussionmentioning

confidence: 99%

“…The partial 17-OH deficiency is much rarer than the complete deficiency 4. 46, XX patients with partial 17-OH deficiency typically develop some secondary sexual characteristics and present a less severe hormonal profile than patients with complete deficiency 5…”

Section: Introductionmentioning

confidence: 99%

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Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia

2019

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Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency, a rare CAH syndrome, is characterised by failure to synthetise cortisol, adrenal androgens and gonadal steroids. The partial deficiency is much rarer, presenting with subtler symptoms. Failure to reach a proper diagnosis causes inappropriate hypertension treatment and impairs the development of secondary sexual characteristics. We report a case of a 30-year-old woman transferred to an endocrinology clinic for evaluation of autoimmune thyroiditis. She was started on oral contraceptives at the age of 13 due to oligomenorrhea and presented underdeveloped pubic and axillar hair and Tanner stage 3 breast development. Biochemical tests evidenced very low androgens levels and genetic analysis confirmed a CAH due to 17α-hydroxylase deficiency. Partial 17α-hydroxylase deficiency is a rare clinical entity, nevertheless, it should be included in the differential diagnosis of menstrual disorders.

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Section: Discussionmentioning

confidence: 99%