Sperm cryopreservation in young males with congenital adrenal hyperplasia (CAH)
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DOI: 10.1111/cen.14792
Abstract: Infertility is one of the long-term complications of congenital adrenal hyperplasia (CAH) in male patients and may result in most cases from the development of testicular adrenal rest tumors (TART) (1). CAH, especially if TART… read more here.
Keywords: adrenal hyperplasia; hyperplasia cah; cah; congenital adrenal ... See more keywords
Hysterectomy in a phenotypic male with congenital adrenal hyperplasia (CAH)
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DOI: 10.1136/bcr-2021-246603
Abstract: A young adult patient with 46XX congenital adrenal hyperplasia (CAH) presented with recurrent painful haematuria. CAH was diagnosed at birth following ambiguous genitalia. Hormonal treatment was started, female gender was assigned and feminising genitoplasty was… read more here.
Keywords: adrenal hyperplasia; hyperplasia cah; hysterectomy phenotypic; cah ... See more keywords
Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
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DOI: 10.1515/jpem-2020-0058
Abstract: Abstract Objectives Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis.11β-hydroxylase deficiency and 17α-hydroxylase deficiency are two forms of CAH caused by defects of CYP11B1 and CYP17A1 respectively. Case presentation Two rare… read more here.
Keywords: adrenal hyperplasia; cah; intronic variants; hyperplasia cah ... See more keywords
MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia (CAH).
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DOI: 10.1530/eje-20-1093
Abstract: Gonadal dysfunction is an adverse outcome in patients with congenital adrenal hyperplasia (CAH), which may become apparent already during puberty. Clinical consequences of gonadal dysfunction include menstrual disturbances in females and hypogonadism and impaired fertility… read more here.
Keywords: hyperplasia cah; dysfunction; adrenal hyperplasia; gonadal dysfunction ... See more keywords
Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study
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DOI: 10.1530/eje-21-1109
Abstract: Objective There is limited knowledge on the onset of comorbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the UK. Design and methods This… read more here.
Keywords: hyperplasia cah; adrenal hyperplasia; health; health status ... See more keywords