POR polymorphisms are associated with 21 hydroxylase deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-021-01527-2
Abstract: Genotype–phenotype correlation in congenital 21 hydroxylase deficiency is strong but by no means absolute. Indeed, clinical and hormonal features may vary among patients carrying similar CYP21A2 mutations, suggesting that modifier genes may contribute to the… read more here.
Keywords: hydroxylase deficiency; deficiency; por polymorphisms;
An AAVrh10-CAG-CYP21-HA vector allows persistent correction of 21-hydroxylase deficiency in a Cyp21−/− mouse model
Sign Up to like & getrecommendations! Published in 2017 at "Gene Therapy"
DOI: 10.1038/gt.2017.10
Abstract: The treatment of severe forms of 21-hydroxylase deficiency (21OHD) remains unsatisfactory in many respects. As a monogenic disease caused by loss-of-function mutations, 21OHD is a potential candidate for a gene therapy (GT) approach. The first… read more here.
Keywords: vector; cyp21; hydroxylase deficiency; cyp21 vector ... See more keywords
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
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DOI: 10.1038/s41598-018-35373-9
Abstract: Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in… read more here.
Keywords: phenotypic spectrum; hydroxylase deficiency; phenylalanine hydroxylase; mutational phenotypic ... See more keywords
Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen–thaw embryo transfer under hormone replacement endometrium preparation
Sign Up to like & getrecommendations! Published in 2018 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2017.1393512
Abstract: Abstract 17α-Hydroxylase deficiency is rare autosomal recessive disorder that manifested by hypertension, hypokalemia, delayed sexual development, primary amenorrhea and infertility. The information regarding infertility care and conception in women with this disorder are extremely limited.… read more here.
Keywords: hydroxylase deficiency; hydroxylase; frozen thaw; thaw embryo ... See more keywords
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters
Sign Up to like & getrecommendations! Published in 2019 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2019.1650342
Abstract: Abstract Congenital adrenal hyperplasia (CAH) is a group of rare orphan disorders caused by mutations in seven different enzymes that impair cortisol biosynthesis. The 17α-hydroxylase deficiency (17OHD) is one of the less common forms of… read more here.
Keywords: two sisters; hydroxylase deficiency; adrenal hyperplasia; congenital adrenal ... See more keywords
Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves’ disease and 47, XXX in a woman: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000031443
Abstract: Rationale: Coexistence of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Graves’ disease and 47, XXX is rare. We report a case of a 25-year-old woman presented with masculine appearance, hirsutism and enlarged clitoris. Lab tests… read more here.
Keywords: disease xxx; chromosome; hydroxylase deficiency; xxx ... See more keywords
Elevated Bone Turnover Markers Predict Bone Mineral Density Accrual in Adolescents with 21-hydroxylase Deficiency.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical endocrinology"
DOI: 10.1111/cen.14809
Abstract: CONTEXT Prognostic biomarkers for monitoring bone health in adolescents with 21-hydroxylase deficiency (21OHD) are needed. OBJECTIVES To assess associations between concentrations of baseline bone turnover markers (BTMs) including osteocalcin (OC) and type-I collagen C-terminal telopeptide… read more here.
Keywords: adolescents hydroxylase; lsbmd; bone; bone turnover ... See more keywords
Pregnancy in a woman with congenital adrenal hyperplasia with 11-beta-hydroxylase deficiency: A case report
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DOI: 10.1177/1753495x211042729
Abstract: Successful pregnancy with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an extremely rare condition. Only two cases have been reported in the literature. Described here is a 30-year-old woman diagnosed as a neonate with… read more here.
Keywords: pregnancy; hydroxylase deficiency; adrenal hyperplasia; congenital adrenal ... See more keywords
Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report
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DOI: 10.1186/s13256-019-2166-9
Abstract: 17α-Hydroxylase deficiency is a recessively inherited autosomal disease caused by mutations in the CYP17A1 gene. It is a rare disease and accounts for approximately 1% of congenital adrenal cortex hyperplasias. Inhibition of 17α-hydroxylase causes low… read more here.
Keywords: hydroxylase; age; hydroxylase deficiency; case ... See more keywords
Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-00082
Abstract: Abstract Purpose Although sexuality has been reported to be impaired in females with congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency, sexuality in males with CAH so far has remained largely unconsidered. Patients One of… read more here.
Keywords: resulting hydroxylase; patients cah; hydroxylase deficiency; adrenal hyperplasia ... See more keywords
MON-369 Treatment of Nonclassic 11-Hydroxylase Deficiency with "Hair, Skin, and Nails," an Over-the-Counter, Insulin Sensitizing Vitamin/Mineral Supplement
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DOI: 10.1210/js.2019-mon-369
Abstract: Abstract Background: Insulin Resistance (IR) is seen in classic (CAH) and non-classic congenital adrenal hyperplasia (NCAH). We previously reported amelioration of biochemical/clinical features in patients with NCAH and Type 2 Diabetes Mellitus (T2DM) or prediabetes… read more here.
Keywords: hydroxylase deficiency; biotin; treatment; deficiency ... See more keywords