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      Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review

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          Abstract

          Purpose

          Congenital 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 therefore to assess these in males with CAH.

          Methods

          We systematically searched the OVID Medline, PsycINFO, CINAHL, and Web of Science databases, for articles published up to April 20, 2018, investigating psychological adjustment in males with CAH.

          Results

          Eleven studies were included in the review. Three main health domains were identified: psychological and psychiatric health, quality of life (QoL), and self-perceptions of reproductive health. Some studies covered more than one health domain. Seven studies explored psychological adjustment and/or the presence of psychiatric symptoms or disorders. Results indicated that males with CAH had more problems related to internalizing behaviors (negative behaviors directed toward the self) and more negative emotionality compared to reference groups. Six studies examined QoL, five of them reporting reduced QoL compared to reference groups. Three studies explored the impact of fertility and sexual health issues on psychological health with varying results from impaired to normal sexual well-being.

          Conclusions

          CAH seems to have an impact on males' psychological health. However, the number of identified studies was limited, included few participants, and revealed divergent findings, demonstrating the need for larger studies and highlighting a number of methodological challenges that should be addressed by future research.

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          Most cited references62

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          Congenital adrenal hyperplasia.

          Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.
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            Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

            Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Southern blot analysis was used to detect CYP21 deletions or large gene conversions, and allele-specific hybridizations were performed with DNA amplified by the polymerase chain reaction to detect smaller mutations. Mutations were detected on 95% of chromosomes examined. The most common mutations were an A----G change in the second intron affecting pre-mRNA splicing (26%), large deletions (21%), Ile-172----Asn (16%), and Val-281----Leu (11%). Patients were classified into three mutation groups based on degree of predicted enzymatic compromise. Mutation groups were correlated with clinical diagnosis and specific measures of in vivo 21-hydroxylase activity, such as 17-hydroxyprogesterone, aldosterone, and sodium balance. Mutation group A (no enzymatic activity) consisted principally of salt-wasting (severely affected) patients, group B (2% activity) of simple virilizing patients, and group C (10-20% activity) of nonclassic (mildly affected) patients, but each group contained patients with phenotypes either more or less severe than predicted. These data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21. Accurate prenatal diagnosis should be possible in most cases using the described strategy.
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              Early Androgens Are Related to Childhood Sex-Typed Toy Preferences

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                Author and article information

                Contributors
                +46-851776411 , henrik.falhammar@ki.se
                Journal
                Endocrine
                Endocrine
                Endocrine
                Springer US (New York )
                1355-008X
                1559-0100
                20 August 2018
                20 August 2018
                2018
                : 62
                : 1
                : 3-13
                Affiliations
                [1 ]ISNI 0000 0004 0389 8485, GRID grid.55325.34, Centre for Rare Disorders, , Oslo University Hospital HF, ; Oslo, Norway
                [2 ]ISNI 0000 0000 9637 455X, GRID grid.411279.8, Department of Endocrinology, , Akershus University Hospital HF, ; Lørenskog, Norway
                [3 ]ISNI 0000 0004 1936 8921, GRID grid.5510.1, Division of Medicine and Laboratory Sciences, Institute of Clinical Medicine, , University of Oslo, ; Oslo, Norway
                [4 ]ISNI 0000 0000 9241 5705, GRID grid.24381.3c, Department of Molecular Medicine and Surgery, Karolinska Institutet, , Karolinska University Hospital, ; Stockholm, Sweden
                [5 ]ISNI 0000 0000 9241 5705, GRID grid.24381.3c, Department of Endocrinology, Metabolism and Diabetes, , Karolinska University Hospital, ; Stockholm, Sweden
                Author information
                http://orcid.org/0000-0002-5622-6987
                Article
                1723
                10.1007/s12020-018-1723-0
                6153586
                30128958
                34539cc8-7c5b-4e47-8224-53735362a97e
                © The Author(s) 2018

                Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits use, duplication, adaptation, distribution, and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

                History
                : 14 June 2018
                : 12 August 2018
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100006285, Magnus Bergvalls Stiftelse;
                Award ID: 2017-02138
                Award Recipient :
                Categories
                Review
                Custom metadata
                © Springer Science+Business Media, LLC, part of Springer Nature 2018

                Endocrinology & Diabetes
                21-hydroxylase deficiency,11β-hydroxylase deficiency,male,psychological,quality of life,self-perception

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