Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
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DOI: 10.1002/mgg3.70029
Abstract: High sequence homology between CYP21A2 and CYP21A1P poses challenges to genetic diagnosis of congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency (21‐OHD). Traditional genetic testing is unable to provide an accurate diagnosis due to the… read more here.
Keywords: adrenal hyperplasia; genetic complexity; congenital adrenal; long read ... See more keywords
Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?
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DOI: 10.1002/pd.6747
Abstract: Congenital adrenal hyperplasia (CAH) is a common metabolic genetic disease. Early diagnosis and intervention are crucial to improve the prognosis. Noninvasive prenatal diagnosis (NIPD) is an early, safe, and accurate method. This study aimed to… read more here.
Keywords: adrenal hyperplasia; congenital adrenal; intrauterine treatment; individualized intrauterine ... See more keywords
Recommendations of patients and families of girls with 46XX congenital adrenal hyperplasia in the United Kingdom regarding the timing of surgery
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DOI: 10.1007/s00383-020-04780-3
Abstract: Purpose The timing of surgery for congenital adrenal hyperplasia (CAH) is contentious. We aimed to survey expert families and patients for their recommendations regarding timing of surgery for a family with a newly diagnosed CAH… read more here.
Keywords: surgery; united kingdom; timing surgery; adrenal hyperplasia ... See more keywords
Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey
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DOI: 10.1007/s10508-024-02853-1
Abstract: Several aspects of clinical management of 46,XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. The North American Disorders/Differences of Sex Development (DSD) Clinician Survey investigated changes, over the last two decades, in clinical recommendations… read more here.
Keywords: two decades; survey; north american; congenital adrenal ... See more keywords
Living with an invisible illness: a qualitative study exploring the lived experiences of female children with congenital adrenal hyperplasia
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DOI: 10.1007/s11136-019-02350-2
Abstract: Purpose Many chronic illnesses are self-evident. However, disorders like congenital adrenal hyperplasia (CAH) are invisible to the naked eye and unnoticeable to others. Therefore, invisible illness is often a shared, misconstrued experience for children with… read more here.
Keywords: children cah; lived experiences; invisible illness; female children ... See more keywords
Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review
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DOI: 10.1007/s12020-018-1723-0
Abstract: PurposeCongenital adrenal hyperplasia (CAH) has been shown to potentially affect psychological adjustment. However, most research has focused on females, and knowledge about psychological challenges in males remains sparse. The aim of this systematic review was… read more here.
Keywords: psychological adjustment; health; systematic review; adrenal hyperplasia ... See more keywords
Adrenal myelolipoma in association with congenital adrenal hyperplasia
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DOI: 10.1007/s12020-018-1827-6
Abstract: Dear Editor The article by Decmann et al. titled “Adrenal myelolipoma: a comprehensive review” [1] was interesting and informative, in which the authors comprehensively analyzed adrenal myelolipomas by reviewing available articles on databases and their… read more here.
Keywords: adrenal myelolipoma; adrenal gland; adrenal hyperplasia; myelolipoma ... See more keywords
Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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DOI: 10.1007/s12020-024-03792-6
Abstract: Purpose To investigate the incidence of nephrolithiasis in a cohort of children with congenital adrenal hyperplasia (CAH), and to study if there is an association with the metabolic control of the disease. Methods This study… read more here.
Keywords: children congenital; risk; congenital adrenal; nephrolithiasis ... See more keywords
Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? First two cases of TARTS described in Addison-only X-linked adrenoleukodystrophy and a brief review of literature
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-020-01362-x
Abstract: Testicular adrenal rest tumors (TARTs) are benign masses deemed to originate from pluripotent testicular steroidogenic cells that grow under chronic ACTH stimulation. These lesions, occasionally misdiagnosed as Leydig cell tumors (LCTs), are typically described in… read more here.
Keywords: bilateral testicular; linked adrenoleukodystrophy; adrenal insufficiency; adrenal hyperplasia ... See more keywords
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells
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DOI: 10.1016/j.celrep.2018.01.003
Abstract: Summary Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback… read more here.
Keywords: adrenal insufficiency; modeling congenital; adrenal hyperplasia; insufficiency ... See more keywords
Allele-specific PCR and next generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104369
Abstract: Genetic screening of Congenital Adrenal Hyperplasia (CAH) is known to be challenging due to the complexities in CYP21A2 genotyping and has not been the first-tier diagnostic tool in routine clinical practice. Also, with the advent… read more here.
Keywords: genetic screening; screening; screening congenital; adrenal hyperplasia ... See more keywords