17α-hydroxlyase/17, 20-lyase Deficiency in Three Siblings with Primary Amenorrhea and Absence of Secondary Sexual Development

Oh, Yun; Ryoo, UiNam; Kim, D.; Cho, S.Y.; Jin, Dong‐Kyu; Yoon, Byung-Koo; Lee, D.Y.; Choi, Doo Seok

doi:10.1016/j.jpag.2012.05.008

Cited by 19 publications

(13 citation statements)

References 7 publications

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“…17α-hydroxylase deficiency is a rare form of CAH, with an estimated incidence of 1 in 50,000–100,000 individuals and represents ~1% of all CAH cases (8,9). CAH is an autosomal recessive disorder that results in decreased production of cortisol, androgens and estrogens, with a subsequent increase in ACTH and gonadotropin levels.…”

Section: Discussionmentioning

confidence: 99%

17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report

et al. 2016

Molecular Medicine Reports

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Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α-hydroxylase/17,20-lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorticotropic hormone levels that stimulate the production of mineralocorticoid precursors. This subsequently leads to hypertension, hypokalemia, primary amenorrhea and sexual infantilism. Over 90 distinct genetic lesions have been identified in patients with this disorder. The prevalence of common mutation of CYP17A1 gene differs among ethnic groups. Treatment of this disorder involves replacement of glucocorticoids and sex steroids. Estrogen alone is prescribed for patients who are biologically male with 17α-hydroxylase deficiencies that identify as female. However, genetically female patients may receive estrogen and progesterone supplementation. In the present study, a 17-year-old female with 17α-hydroxylase/17,20-lyase deficiency that presented with primary amenorrhea and sexual infantilism and no hypertension, was examined. The karyotype of the patient was 46, XX, and genetic analysis revealed the presence of a compound heterozygous mutation in exons 6 and 8, leading to the complete absence of 17α-hydroxylase/17,20-lyase activity. The patient was treated with prednisolone and ethinyl estradiol. In addition, a summary of the recent literature regarding CAH is presented.

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Section: Discussionmentioning

confidence: 99%

17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report

et al. 2016

Molecular Medicine Reports

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“…17α-hydroxylase deficiency is a rare form of CAH, with an estimated incidence of 1 in 50,000 to 100,000, and accounts for about 1% of all CAH cases [ 2 3 ]. The most common enzyme defect causing CAH is 21-hydroxylase deficiency (21-OHD), followed by 11β-hydroxylase deficiency (11β-OHD).…”

Section: Discussionmentioning

confidence: 99%

A case of 17 alpha-hydroxylase deficiency

Kim

Rhee

2015

Clin Exp Reprod Med

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17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the excessive levels of mineralocorticoids lead to volume expansion and hypertension. Females with 17α-hydroxylase deficiency are characterized by primary amenorrhea and delayed puberty, with accompanying hypertension. Affected males usually have female external genitalia, a blind vagina, and intra-abdominal testes. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with 17α-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation. Here, we report a case of a 21-year-old female with 17α-hydroxylase deficiency who had received inadequate treatment for a prolonged period of time. We also include a brief review of the recent literature on this disorder.

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“…mutation in exon 6 of CYP17A1 gene. The P450c17 deficiency is very rare per se, representing almost 1% of all CAH cases, with an estimated incidence of 1 in 50,000–100,000 individuals [ 13 , 14 ]. What is peculiar to this case and makes it unique lies on the following: (i) the remarkable delay in the diagnosis of CAH and, nonetheless, the possibility of investigating the long-term consequences of P450c17 enzyme deficiency on the clinical point of view; (ii) the combined loss of 17 α -hydroxylase and 17,20-lyase action; (iii) the homozygous mutation in CYP17A1 gene associated with male XY karyotype.…”

Section: Discussionmentioning

confidence: 99%

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

Papi

Paragliola

Concolino

et al. 2018

Case Reports in Endocrinology

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Context Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway. Case Description A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of the CYP17A1 gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively. Conclusions We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.

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17α-hydroxlyase/17, 20-lyase Deficiency in Three Siblings with Primary Amenorrhea and Absence of Secondary Sexual Development

Cited by 19 publications

References 7 publications

17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report

17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report

A case of 17 alpha-hydroxylase deficiency

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

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