Recommendations of patients and families of girls with 46XX congenital adrenal hyperplasia in the United Kingdom regarding the timing of surgery
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Surgery International"
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
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
Sign Up to like & getrecommendations! Published in 2018 at "Endocrine"
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
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
'Vanishing carpal bones' in a patient with congenital adrenal hyperplasia - A diagnostic dilemma.
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DOI: 10.1016/j.jor.2020.10.001
Abstract: The vanishing bone disease, also known as Gorhams disease usually involves long bones. Isolated carpal bone involvement is uncommon. A 14 year old male presented with pain in the right wrist joint since 4 months.… read more here.
Keywords: bones patient; adrenal hyperplasia; vanishing carpal; congenital adrenal ... See more keywords
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.
Sign Up to like & getrecommendations! Published in 2019 at "Jornal de pediatria"
DOI: 10.1016/j.jped.2018.03.003
Abstract: OBJECTIVE To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. METHODS A cross-sectional study was… read more here.
Keywords: clinical molecular; screening program; program implementation; adrenal hyperplasia ... See more keywords
Pregnancy, delivery and neonatal outcomes among women with congenital adrenal hyperplasia: a study of a large US database.
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DOI: 10.1016/j.rbmo.2020.08.036
Abstract: RESEARCH QUESTION What is the association between congenital adrenal hyperplasia (CAH) and pregnancy, delivery and neonatal outcomes, using a population database cohort. DESIGN Retrospective study using the Health Care Cost and Utilization Project-Nationwide Inpatient Sample… read more here.
Keywords: pregnancy; adrenal hyperplasia; cah; database ... See more keywords
Three Cases of Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia-A Diagnostic and Therapeutic Challenge.
Sign Up to like & getrecommendations! Published in 2019 at "Urology"
DOI: 10.1016/j.urology.2019.03.005
Abstract: CASE 1 A 23-year-old man presented with massive enlargement of his testes. He had a known history of salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) and was on glucocorticoid and mineralocorticoid replacement since… read more here.
Keywords: testicular adrenal; adrenal hyperplasia; cases testicular; three cases ... See more keywords