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"Congenital Adrenal Hyperplasia"

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https://www.readbyqxmd.com/read/28523454/stigma-associated-with-classical-congenital-adrenal-hyperplasia-in-women-s-sexual-lives
#1
Heino F L Meyer-Bahlburg, Jananne Khuri, Jazmin Reyes-Portillo, Anke A Ehrhardt, Maria I New
The risk of intersex-related stigma often serves as social indication for "corrective" genital surgery, but has not been comprehensively documented. In preparation for the development of an intersex-specific stigma assessment tool, this qualitative project aimed to explore stigma in girls and women with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. As part of a comprehensive follow-up project, 62 adult women with classical CAH (age range 18-51 years) took part in an open-ended retrospective interview focusing on the impact of CAH and its treatment on various aspects of girls' and women's lives...
May 18, 2017: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/28521877/cyp21a2-intronic-variants-causing-21-hydroxylase-deficiency
#2
REVIEW
Paola Concolino, Roberta Rizza, Alessandra Costella, Cinzia Carrozza, Cecilia Zuppi, Ettore Capoluongo
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for 5-10% of 21-hydroxylase deficiency alleles. Intronic variants represent only a little part of these but their effect on the protein is generally deleterious. The aim of this paper is to provide a comprehensive literary review regarding all intronic CYP21A2 pathological variants reported to date...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28514642/congenital-adrenal-hyperplasia-due-to-11-hydroxylase-deficiency-compound-heterozygous-mutations-of-a-prevalent-and-two-novel-cyp11b1-mutations
#3
Chongjuan Gu, Tao Tan, Junbao Yang, Yilu Lu, Yongxin Ma
11β-hydroxylase deficiency (11β-OHD) occurs in about 5-8% of congenital adrenal hyperplasia (CAH). In this study, we identified three CYP11B1 (encoding Cytochrome P450 11B1) heterozygous mutations: c.1358G>C (p.R453Q), c.1229T>G (p.L410R) and c.1231G>T (p.G411C) in a Chinese CAH patient due to classic 11β-OHD. His parents were healthy and respectively carried the prevalent mutation c.1358G>C (p.R453Q), and the two novel mutations c.1229T>G (p.L410R) and c.1231G>T (p.G411C). In vitro expression studies, immunofluorescence demonstrated that wild type and mutant (L410R and G411C) proteins of CYP11B1 were correctly expressed on the mitochondria, and enzyme activity assay revealed the mutant reduced the 11-hydroxylase activity to 10% (P<0...
May 14, 2017: Gene
https://www.readbyqxmd.com/read/28513122/the-many-faces-of-non-classic-congenital-adrenal-hyperplasia
#4
REVIEW
Irit Ayalon-Dangur, Anat Segev-Becker, Itay Ayalon, Ori Eyal, Shoshana Israel, Naomi Weintrob
No abstract text is available yet for this article.
May 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28512133/quality-of-compounded-hydrocortisone-capsules-used-in-the-treatment-of-children
#5
Uta Neumann, Daniela Burau, Sarah Spielmann, Martin Whitaker, Richard J Ross, Charlotte Kloft, Oliver Blankenstein
Objectives: Due to the lack of paediatric licensed formulations, children are often treated with individualized pharmacy-compounded adult medication. An international web-based survey about the types of medication in children with adrenal insufficiency (AI) revealed that the majority of paediatric physicians are using pharmacy-compounded medication to treat children with AI. Observations of loss of therapy control in children with congenital adrenal hyperplasia with compounded hydrocortisone capsules and regained control after prescribing a new hydrocortisone batch led to this "real world" evaluation of pharmacy-compounded paediatric hydrocortisone capsules...
May 16, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28504212/psychological-adjustment-in-parents-of-children-born-with-atypical-genitalia-one-year-after-their-child-undergoes-genitoplasty
#6
Rebecca Eh Ellens, Dana M Bakula, Alexandria J Mullins, Kristy J Scott Reyes, Paul Austin, Laurence Baskin, Kerlly Bernabé, Earl Y Cheng, Allyson Fried, Dominic Frimberger, Denise Galan, Lynette Gonzalez, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Larry L Mullins, Natalie J Nokoff, Blake Palmer, Dix Poppas, Alethea Paradis, Elizabeth Yerkes, Amy B Wisniewski, Cortney Wolfe-Christensen
PURPOSE: The current study examined the psychological adjustment of parents of children born with moderate to severe genital atypia 12 months after their child underwent genitoplasty. MATERIALS AND METHODS: Parents were recruited longitudinally from a multi-center collaboration of 10 pediatric hospitals with specialty care for children with a Disorder/Difference of Sex Development and/or Congenital Adrenal Hyperplasia. Parents completed measures of depressive and anxious symptoms, illness uncertainty, quality of life, post-traumatic stress, and decisional regret...
May 11, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28500827/psychological-vulnerability-to-stress-in-carriers-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#7
Eleni-Magdalini Kyritsi, Georgia Koltsida, Ioanna Farakla, Aikaterini Papanikolaou, Elena Critselis, Emilia Mantzou, Emmanouil Zoumakis, Gerasimos Kolaitis, George P Chrousos, Evangelia Charmandari
OBJECTIVE: Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production and compensatory increases in hypothalamic corticotropin-releasing hormone (CRH) secretion. Both cortisol and CRH have behavioral effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression. We performed an endocrinologic and psychological evaluation in carriers of 21-OHD and matched control subjects...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28489558/evaluation-of-factors-associated-with-elevated-newborn-17-hydroxyprogesterone-levels
#8
V Shobi Anandi, Bhattacharyya Shaila
BACKGROUND: Measurement of 17-hydroxyprogesterone (17-OHP) in dried blood spots has been widely used as a newborn screening tool for congenital adrenal hyperplasia (CAH). Various maternal and neonatal factors can result in falsely high values of 17-OHP. There is a paucity of Indian studies in this regard because routine evaluation of newborn 17-OHP levels as a screening program is not widely practiced in India. Hence, this study was undertaken to evaluate the influence of various maternal and neonatal factors on newborn 17-OHP levels...
May 10, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28487735/variations-in-the-3-utr-of-the-cyp21a2-gene-in-heterozygous-females-with-hyperandrogenaemia
#9
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Alexia A P Phedonos, Michalis Picolos, Elena Andreou, Tassos C Kyriakides, George A Tanteles, Christos Shammas, Leonidas A Phylactou, Nicos Skordis
Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and women with CYP21A2 mutations and variants in the 3'UTR region of the gene. Sixty-six patients out of the 169 were identified as carriers of CYP21A2 mutations. Higher values of stimulated 17 hydroxyprogesterone (17-OHP) levels were found in the carriers of the p...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28487303/female-phenotype-with-male-karyotype-a-clinical-enigma
#10
Suja Sukumar, Pavan Uppula, Santosh Kumar, Anil Bhansali
Development of gonadal and phenotypic sex during embryogenesis invariably corresponds to the genotypic sex. However, some disorders of sex development are associated with discordance between the chromosomal, gonadal or phenotypic sex which include complete androgen insensitivity syndrome, 46XY complete gonadal dysgenesis (Swyer syndrome) and, rarely, congenital adrenal hyperplasia due to CYP 17A1 (17α-hydroxylase) deficiency. The enzyme CYP17A1 includes 17α-hydroxylase and 17,20-lyase which are required for the synthesis of cortisol and sex steroids, respectively...
May 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28476231/genetics-of-congenital-adrenal-hyperplasia
#11
REVIEW
Fady Hannah-Shmouni, Wuyan Chen, Deborah P Merke
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single-gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with more than 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is an important tool in confirming the diagnosis or carrier state, provides prognostic information on disease severity, and is essential for genetic counseling. In this article, the authors provide an in-depth discussion on the genetics of CAH, including genetic diagnosis, molecular analysis, genotype-phenotype relationships, and counseling of patients and their families...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28467518/mutation-spectrum-of-star-and-a-founder-effect-of-the-p-q258-in-korean-patients-with-congenital-lipoid-adrenal-hyperplasia
#12
Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi
Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, caused by defects in the steroidogenic acute regulatory protein (STAR). The STAR p.Q258* mutation is the most common mutation in China, Japan, and Korea, suggesting a founder effect. This study aimed to investigate the phenotypic and mutation spectrum of STAR defects and identify a founder effect of the p.Q258* mutation in Korean patients with CLAH. For 45 patients from 42 independent pedigrees, haplotype analysis was performed in 10 unrelated trio families, including patients with the p...
May 2, 2017: Molecular Medicine
https://www.readbyqxmd.com/read/28458886/de-novo-disruption-of-promoter-and-exon-1-of-star-gene-reveals-essential-role-for-gonadal-development
#13
Anil Piya, Jasmeet Kaur, Alan M Rice, Himangshu S Bose
SUMMARY: Cholesterol transport into the mitochondria is required for synthesis of the first steroid, pregnenolone. Cholesterol is transported by the steroidogenic acute regulatory protein (STAR), which acts at the outer mitochondrial membrane prior to its import. Mutations in the STAR protein result in lipoid congenital adrenal hyperplasia (CAH). Although the STAR protein consists of seven exons, biochemical analysis in nonsteroidogenic COS-1 cells showed that the first two were not essential for pregnenolone synthesis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28450305/mechanisms-in-endocrinology-update-on-pathogenesis-of-primary-adrenal-insufficiency-beyond-steroid-enzyme-deficiency-and-autoimmune-adrenal-destruction
#14
Christa Flueck
Primary adrenal insufficiency (PAI) is potentially life threatening, but rare. In children genetic defects prevail, while adults suffer mostly from acquired forms. The spectrum of genetic defects has increased in recent years with the use of next generation sequencing methods and reaches now far beyond genetic defects in known enzymes of steroidogenesis. Cofactor disorders such as P450 oxidoreductase (POR) deficiency manifesting as a complex form of congenital adrenal hyperplasia with a broad clinical phenotype have come to the forth...
April 27, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28450075/congenital-adrenal-hyperplasia
#15
REVIEW
Selma Feldman Witchel
The congenital adrenal hyperplasias (CAH) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to21-hydroxylase deficiency associated with mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum reflecting the consequences of the specific mutations. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children...
April 24, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28427378/assessment-of-cardiac-function-in-children-with-congenital-adrenal-hyperplasia-a-case-control-study-in-cameroon
#16
J Tony Nengom, S Sap Ngo Um, D Chelo, R Mbono Betoko, J Boombhi, F Mouafo Tambo, A Chiabi, S Kingue, P Koki Ndombo
BACKGROUND: High level of androgens found in congenital adrenal hyperplasia (CAH) seems to have a deleterious effect on heart function. We therefore evaluate cardiac function of children with CAH in comparison with a healthy group. METHODS: We carried out a case-control study in the single endocrinology unit of the Mother and Child Center of Chantal Biya's Foundation. Cases were matched for age and genotypic sex to 2 healthy controls. We analyzed the ejection fraction (LVEF), fractional shortening and left ventricular mass; output and cardiac index; E and A waves velocities, E/A ratio and the mitral deceleration time and diameter of the left atrium; tricuspid annular plane systolic excursion and pulmonary artery systolic pressure were also measured...
April 20, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28416079/management-of-childhood-congenital-adrenal-hyperplasia-an-integrative-review-of-the-literature
#17
Louise Fleming, Marcia Van Riper, Kathleen Knafl
Congenital adrenal hyperplasia (CAH) is an endocrine condition that requires parents to administer steroids up to three times daily, supplementing maintenance doses with oral or injectable doses during times of illness. The purpose of this integrative review was to explore the management, care, and associated health issues for children with CAH and the family response to the condition. Four literature indexes were searched, with 39 articles included. Four themes emerged: (a) Health- and Development-Related Issues, (a) Effects of Excess Androgens, (c) Life Experience of CAH, and (d) Managing and Averting Adrenal Crisis...
April 13, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28401898/a-unique-haplotype-of-rccx-copy-number-variation-from-the-clinics-of-congenital-adrenal-hyperplasia-to-evolutionary-genetics
#18
Márton Doleschall, Andrea Luczay, Klára Koncz, Kinga Hadzsiev, Éva Erhardt, Ágnes Szilágyi, Zoltán Doleschall, Krisztina Németh, Dóra Török, Zoltán Prohászka, Balázs Gereben, György Fekete, Edit Gláz, Péter Igaz, Márta Korbonits, Miklós Tóth, Károly Rácz, Attila Patócs
There is a difficulty in the molecular diagnosis of congenital adrenal hyperplasia (CAH) due to the c.955C>T (p.(Q319*), formerly Q318X, rs7755898) variant of the CYP21A2 gene. Therefore, a systematic assessment of the genetic and evolutionary relationships between c.955C>T, CYP21A2 haplotypes and the RCCX copy number variation (CNV) structures, which harbor CYP21A2, was performed. In total, 389 unrelated Hungarian individuals with European ancestry (164 healthy subjects, 125 patients with non-functioning adrenal incidentaloma and 100 patients with classical CAH) as well as 34 adrenocortical tumor specimens were studied using a set of experimental and bioinformatic methods...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28392195/clinical-characteristics-of-taiwanese-children-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-detected-by-neonatal-screening
#19
Shih-Yao Liu, Cheng-Ting Lee, Yi-Ching Tung, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Yu Tsai
BACKGROUND/PURPOSE: Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Taiwan since 2000. This study aimed to determine the clinical characteristics of Taiwanese children with CAH due to 21-hydroxylase deficiency (21-OHD) detected by neonatal screening. METHODS: From 2000 to 2015, 26 neonates (14 boys and 12 girls) with classic 21-OHD detected by neonatal screening and confirmed at National Taiwan University Hospital were enrolled...
April 6, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28383228/classic-congenital-adrenal-hyperplasia
#20
Ingrid Nermoen, Eystein S Husebye, Anne Grethe Myhre, Kristian Løvås
Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.
April 2017: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
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