Mìžnarodnij Endokrinologìčnij Žurnal, 2019 Non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the actual causes of hyperandrogenic manifestations at different age intervals.
O.V. Rykova
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Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care [PDF]
Korean Journal of Pediatrics, 2017 Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into ...
Jin-Ho Choi, Han-Wook Yoo
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Macrophages in endocrine glands, with emphasis on pancreatic islets [PDF]
, 2016 We review here the macrophages found in endocrine tissues, placing emphasis on those residing in the islets of Langerhans of the pancreas. The islets represent the endocrine organ where macrophages have been examined in great detail and where our own ...
Unanue, Emil R
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Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences
European Journal of Case Reports in Internal Medicine, 2021 Objective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.
Jack Lin +3 more
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Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]
, 2017 Context: Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking. Objective: To study mortality and causes of death in CAH.
Almqvist, C. +6 more
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21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia [PDF]
, 2009 Mutations in CYP21 (21-hydroxylase) lead to congenital adrenal hyperplasia (CAH). We genotyped 26 probands with CAH by PCR-sequencing the entire CYP21 gene. 25/26 had homozygous or compound heterozygous mutations.
Asanuma A +31 more
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Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY
Frontiers in Genetics, 2022 Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency,
Sophia Q. Song +12 more
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Congenital adrenal hyperplasia: Diagnostic advances [PDF]
, 2018 Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
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Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions [PDF]
, 2002 Steroid 21-hydroxylase deficiency is caused by a defect in the CYP21A2 gene. CYP21A2, the adjacent complement C4 gene and parts of the flanking genes RP1 and TNXB constitute a tandemly duplicated arrangement in the central (class III ...
Degenhart, H.J. (Herman) +2 more
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A Cre‐dependent lentiviral vector for neuron subtype‐specific expression of large proteins
FEBS Letters, EarlyView.We designed a versatile and modular lentivector comprising a Cre‐dependent switch and self‐cleaving 2A peptide and tested it for co‐expression of GFP and a 2.8 kb gene of interest (GOI) in mouse cortical parvalbumin (PV+) interneurons and midbrain dopamine (TH+) neurons.
Weixuan Xue +6 more
wiley +1 more source