Results 61 to 70 of about 3,461 (195)

Presentation and Management of Addison's Disease in a 10‐Year‐Old Boy: A Case Report

iLABMED, Volume 4, Issue 1, Page 59-63, March 2026.
ABSTRACT Addison's disease, or primary adrenal insufficiency, is a rare endocrine disorder characterized by impaired adrenal hormone production. We report a case of a 10‐year‐old boy with congenital adrenal hyperplasia and secondary Addison's disease on long‐term corticosteroid therapy who presented with recurrent non‐bilious vomiting, low‐grade fever,
Srinivasan Sivannan, Mohammed Azhar Hussain, Syed Mohammed Hussaini, Pasumarthi Tejashree, Karthikeyan Elumalai   +4 more
wiley   +1 more source

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

Molecular Genetics and Metabolism Reports, 2015
Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of the cases are caused by abnormal function of the 21-hydroxylase enzyme. This deficiency leads to androgen excess, consequently, to virilization and rapid somatic
Silva-Grecco, Roseane Lopes da, de Paula Michelatto, Débora, Lincoln-de-Carvalho, Carolina Rodrigues, Henrique, Pamela Pontes, da Cunha, Heloísa Marcelina, Palandi-de-Mello, Maricilda   +5 more
openaire   +3 more sources

Vitamin D-mediated regulation of CYP21A2 transcription – a novel mechanism for vitamin D action

, 2012
Background1α,25-Dihydroxyvitamin D3 has recently been reported to decrease expression and activity of CYP21A2. In this paper, we have studied the mechanisms for the 1α,25-dihydroxyvitamin D3-mediated effect on CYP21A2 transcriptional rate.MethodsWe have ...
Lundqvist, Johan,, Wikvall, Kjell,, Norlin, Maria,   +2 more
core   +1 more source

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. [PDF]

PLoS ONE, 2008
The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs).
Silvia Parajes, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi   +3 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2 [PDF]

The Journal of Steroid Biochemistry and Molecular Biology, 2012
The human steroidogenic cytochromes P450 CYP17A1 (P450c17, 17α-hydroxylase/17,20-lyase) and CYP21A2 (P450c21, 21-hydroxylase) are required for the biosynthesis of androgens, glucocorticoids, and mineralocorticoids. Both enzymes hydroxylate progesterone at adjacent, distal carbon atoms and show limited tolerance for substrate modification.
Francis K, Yoshimoto, Melissa C, Desilets, Richard J, Auchus   +2 more
openaire   +2 more sources

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients

, 2012
More than 90\% of all cases of congenital adrenal hyperplasia (CAH) result from steroid 21-hydroxylase gene (CYP21A2) mutations. The CYP21A2 gene is located in the human leukocyte antigen (HLA) class III region on the short arm of chromosome 6p21.3 ...
Zuppi, Cecilia, Concolino, Paola, Capoluongo, Ettore Domenico   +2 more
core   +1 more source

Congenital Adrenal Hyperplasia – A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India

Indian Journal of Endocrinology and Metabolism
Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the CYP21A2 gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD).
Lavanya Ravichandran, Hesarghatta S. Asha, Sarah Mathai, Nihal Thomas, Aaron Chapla   +4 more
doaj   +1 more source

Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Aldosterone synthase deficiency is a rare cause of neonatal salt‐wasting and failure to thrive. Routine newborn electrolyte screening after 5 days of life is vital for early detection and prevention of life‐threatening crises. Genetic confirmation enables targeted fludrocortisone therapy, ensuring favorable growth and developmental outcomes.
Mian Muhammad Hassan Ahmed, Rehmana Waris, Samra Batool, Rahmat Gul Omarzai, Abdur Rehman   +4 more
wiley   +1 more source

CYP21A2 gene mutationsin the women with recurrent miscarriage

Journal of obstetrics and women's diseases, 2012
Miscarriage is one of the major problems of modern reproduction. Total frequency of micarrieges is estimated as 15–27 % of total pregnancies. Recurrent Miscarriage (RM) (three or more spontaneous abortions) is responsible for almost 20 % of total miscarrieges. The population frequency of RM fluctuates from 2 % to 5 %.
Natalya Sergeevna Osinovskaya, Iskender Yuryevich Sultanov, Tatyana Eduardovna Ivaschenko, Vladislav Sergeevich Baranov   +3 more
openaire   +2 more sources