Stroke in Young Heralding the Diagnosis of Congenital Adrenal Hyperplasia
Liza Das, Nimisha Jain, Anshita Aggarwal, Pinaki Dutta, Anil BhansaliNeurology India 2020 68(3):688-690 (Source: Neurology India)
Source: Neurology India - July 6, 2020 Category: Neurology Authors: Liza Das Nimisha Jain Anshita Aggarwal Pinaki Dutta Anil Bhansali Source Type: research

Effect of long-term glucocorticoid therapy on bone mineral density of the patients with congenital adrenal hyperplasia.
ccedil; N, Kandemir N Abstract BACKGROUND AND OBJECTIVES: Congenital adrenal hyperplasia (CAH) is characterized by androgen excess which should be treated with life-long glucocorticoid therapy, thus can affect bone mineralization. We aimed to evaluate the bone mineral density (BMD) and determine the factors affecting bone mineralization in patients with CAH. METHOD: This prospective case-control study was conducted in children, adolescents and young adults with classical 21-hydroxylase CAH, and age-, sex-, and pubertal stage matched healthy controls. Lumbar1-4 BMD was determined by dual-energy X-ray absorptio...
Source: The Turkish Journal of Pediatrics - June 21, 2020 Category: Pediatrics Authors: Ünal S, Alikaşifoğlu A, Özön A, Gönç N, Kandemir N Tags: Turk J Pediatr Source Type: research

Congenital adrenal hyperplasia: does repair after two years of age have a worse outcome?
Congenital Adrenal Hyperplasia (CAH) is the commonest cause of disorders of sex development (DSD) in children. The timing of surgery, early versus late, is a subject of current debate. We hypothesize that surgery for congenital adrenal hyperplasia after age two results in a worse outcome than procedures performed earlier in the neonatal period." (Source: Journal of Pediatric Urology)
Source: Journal of Pediatric Urology - June 19, 2020 Category: Urology & Nephrology Authors: Shaymaa Elsayed, Haytham Badawy, Doaa khater, Magdy Abdelfattah, Magdy Omar Source Type: research

Sexual function in women with androgen excess disorders: classic forms of congenital adrenal hyperplasia and polycystic ovary syndrome
AbstractPurposeWe compared the sexual function in women with classic forms of congenital adrenal hyperplasia (CAH) and polycystic ovary syndrome (PCOS) to find if the cause of androgen excess determines sexual functioning.MethodsHundred and four women (21 with CAH, 63 with PCOS and 20 healthy controls) aged 18 –40 years were included into the study. All participants completed a questionnaire regarding their sociodemographic background and underwent anthropometric and basic biochemical measurements. Plasma levels of total testosterone, androstenedione, and 17-hydroxyprogesterone were measured with immun oassay. T...
Source: Journal of Endocrinological Investigation - June 15, 2020 Category: Endocrinology Source Type: research

Sexual Function and Health Status in adult patients with Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia (CAH) is the most common reason for undifferentiated genital appearance in new-borns. Psychosexual outcome in women with CAH has been rarely evaluated, but it seems to be one of the most important factors determining the indications for the surgical treatment of CAH. (Source: Journal of Pediatric Urology)
Source: Journal of Pediatric Urology - May 31, 2020 Category: Urology & Nephrology Authors: Dobrowolska-Glazar Barbara, Honkisz Ireneusz, Sulislawski Janusz, Tyrawa Katarzyna, Wolnicki Michal, Chrzan Rafal Source Type: research

IJERPH, Vol. 17, Pages 3852: Early Feminizing Genitoplasty in Girls with Congenital Adrenal Hyperplasia (CAH) —Analysis of Unified Surgical Management
Conclusions: Early feminizing genitoplasty in girls with congenital adrenal hyperplasia, irrespective of virilization severity, gives satisfactory cosmetic results and is characterized by low and acceptable surgical risk. Nevertheless, the most important determinant of the effectiveness of such management would be future patients’ satisfaction. (Source: International Journal of Environmental Research and Public Health)
Source: International Journal of Environmental Research and Public Health - May 29, 2020 Category: Environmental Health Authors: Grzegorz Kudela Aneta Gawlik Tomasz Koszutski Tags: Communication Source Type: research

Identity, Sexuality, and Parenthood in Women with Congenital Adrenal Hyperplasia
To explore how women with congenital adrenal hyperplasia (CAH) describe their experiences of gender role behavior, psychosexual development and intimate relationships. CAH results in increased androgen exposure in affected females and is the most common reason for unclear sex at birth. Women with CAH have been studied to find answers to the role of androgens in psychosexual development. Nevertheless, factors that may account for the variability of outcomes in women with CAH are unclear. (Source: Journal of Pediatric and Adolescent Gynecology)
Source: Journal of Pediatric and Adolescent Gynecology - May 27, 2020 Category: OBGYN Authors: Hedvig Engberg, Anders M öller, Kerstin Hagenfeldt, Agneta Nordenskjöld, Louise Frisén Source Type: research

Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia
Publication date: Available online 17 May 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Leif Karlsson, Michela Barbaro, Ewoud Ewing, David Gomez-Cabrero, Svetlana Lajic (Source: The Journal of Steroid Biochemistry and Molecular Biology)
Source: The Journal of Steroid Biochemistry and Molecular Biology - May 18, 2020 Category: Biochemistry Source Type: research

[11C]ATR-101 PET imaging to identify macrophage differentiation to foam cell
Conclusion: ACAT1 inhibitors [11C]ATR-101 and [18F]ATR-F were synthesized. Biodistribution studies showed good adrenal uptake for both agents. [11C]ATR-101 when administered to (healthy) C57BL6 and (atherosclerotic) ApoE-/- mice could easily distinguish the diseased animal from the healthy control. Future studies will use PET/CT for additional structural information, and [18F]ATR-F will be used in longer imaging studies. References: (1) Yu, X.-H.; Fu, Y.-C.; Zhang, D.-W.; Yin, K.; Tang, C.-K. Foam Cells in Atherosclerosis. Clin. Chim. Acta 2013, 424, 245-252.(2) Trivedi, B. K.; Purchase, T. S.; Holmes, A.; Augelli-szafran,...
Source: Journal of Nuclear Medicine - May 15, 2020 Category: Nuclear Medicine Authors: Hill, J., Scott, P., Wong, K. K., Viglianti, B., Brooks, A. Tags: Preclinical Probes for Cardiovascular, Endocrine & amp; Other Source Type: research

Recurrent hepatocellular carcinoma and non-classic adreno-genital syndrome.
CONCLUSIONS: Our report suggests the need for screening of liver lesions in males affected by this syndrome. PMID: 32373953 [PubMed - in process] (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - May 7, 2020 Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research

21-Hydroxylase deficiency associated with an atypical CYP21A2 E6 cluster containing p.I236K
The combination of three mutations in exon 6 of CYP21A2 (p.I236N, p.V237E, and p.M239K), which is sometimes referred to as the E6 cluster, has been identified as an underlying cause of 21-hydroxylase deficiency (21-OHD).1 Some patients with 21-OHD have also been identified as having an atypical E6 cluster containing p.I236K, p.V237E, and p.M239K. This genotype is rare, so the associated congenital adrenal hyperplasia phenotype has not been well described. Here, we report a case having 21-OHD caused by a combination of the p.I172N mutation and an atypical E6 cluster. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - May 7, 2020 Category: Perinatology & Neonatology Authors: Daisuke Watanabe, Hideaki Yagasaki, Satoru Kojika, Takeshi Inukai Tags: Letter to the Editor Source Type: research

Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent Without a Tumor
Conclusions: A novel heterozygous nonsense mutation in the STS gene and a known heterozygous missense variant in the BCRP gene were found. The heterozygous nonsense mutation in the STS gene is not supposed to be responsible for STS deficiency. The BCRP variant is associated with reduced efflux transport activity only in its homozygous state. The combination of the two heterozygous mutations could possibly explain the observed high levels of DHEAS and other sulfated steroids. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - May 6, 2020 Category: Endocrinology Source Type: research

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
AbstractDespite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but not all, discordant phenotypes caused by mutations with known enzyme activity have been explained by in silico structural changes in the 21-hydroxylase protein. The incidence of P30L mutation varies in different populations and is most frequently found in several Central and Southeast European countries as well as Mexico. Patients carrying P30L mutation present predominant...
Source: Endocrine - May 5, 2020 Category: Endocrinology Source Type: research

A Multi-center Cross-sectional Study of Malaysian Females with Congenital Adrenal Hyperplasia: their Body image and their Perspectives on Feminizing Surgery
To explore the impact of Congenital Adrenal Hyperplasia (CAH) on body image in Malaysian females with CAH and to understand the perspectives of these young women and their parents towards Feminizing Genitoplasty (FG) (Source: Journal of Pediatric and Adolescent Gynecology)
Source: Journal of Pediatric and Adolescent Gynecology - May 3, 2020 Category: OBGYN Authors: Zainuddin AA, Grover SR, Soon CH, Nur Azurah AG, Mahdy ZA, Abdul Manaf MR, Shamsuddin K Source Type: research

A Multicenter Cross-Sectional Study of Malaysian Females With Congenital Adrenal Hyperplasia: Their Body Image and Their Perspectives on Feminizing Surgery
To explore the impact of congenital adrenal hyperplasia (CAH) on body image in Malaysian females with CAH and to understand the perspectives of these young women and their parents toward feminizing genitoplasty (FG). (Source: Journal of Pediatric and Adolescent Gynecology)
Source: Journal of Pediatric and Adolescent Gynecology - May 3, 2020 Category: OBGYN Authors: Ani Amelia Zainuddin, Sonia Regina Grover, Chong Hong Soon, Nur Azurah Abdul Ghani, Zaleha Abdullah Mahdy, Mohammad Rizal Abdul Manaf, Khadijah Shamsuddin Source Type: research

Long-term cardio-metabolic outcomes in patients with classical congenital adrenal hyperplasia: is the risk real?
Purpose of review Data on the long-term cardio-metabolic outcomes classical congenital adrenal hyperplasia (CAH) patients have been published with controversial results. Conventional treatment recommends hydrocortisone during childhood; and short and/or long-acting glucocorticoid during adulthood, associated or not with mineralocorticoid, in an attempt to simulate normal cortisol secretion and to normalize androgen excess. However, the balance between glucocorticoid over or undertreatment is very challenging, and patients frequently oscillate between hypercortisolism or hyperandrogenism. Considering these data, we review...
Source: Current Opinion in Endocrinology, Diabetes and Obesity - May 1, 2020 Category: Endocrinology Tags: ADRENAL CORTEX AND MEDULLA: Edited by Irina Bancos Source Type: research

Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations
ConclusionStrip hybridization assay is a rapid screening tool for the diagnosis of CAH. The authors hypothesized an easy and rapid scheme for clinical interpretation of the strip results to gain the highest value of the strip in diagnosis. (Source: Journal of Endocrinological Investigation)
Source: Journal of Endocrinological Investigation - May 1, 2020 Category: Endocrinology Source Type: research

Prevalence and characteristics of adrenal tumors and myelolipomas in congenital adrenal hyperplasia: a systematic review and meta-analysis
Endocrine Practice, Ahead of Print. (Source: Endocrine Practice)
Source: Endocrine Practice - April 27, 2020 Category: Endocrinology Authors: Ingrid Nermoen Henrik Falhammar Source Type: research

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.
In this report, we describe a pair of monozygotic twins with classic simple virilising form of CAH, who had a simultaneous onset and similar severity of clinical manifestations. Genetic analysis of the CYP21A2 gene in twin 1 showed the pres-ence of two heterozygous pathogenic sequence variants, c.518T>A and c.955C>T in the CYP21A2 gene, consistent with a diagnosis of CAH due to 21-hydroxylase deficiency. We also present a brief review of previous cases of twins with CAH. PMID: 32272826 [PubMed - as supplied by publisher] (Source: Pediatric Endocrinology, Diabetes, and Metabolism)
Source: Pediatric Endocrinology, Diabetes, and Metabolism - April 10, 2020 Category: Endocrinology Authors: Muthuvel B, Gautam A, Pal R, Panigrahi I, Dayal D Tags: Pediatr Endocrinol Diabetes Metab Source Type: research

[Testicular adrenal rest tumor in the background of congenital adrenal hyperplasia].
, Szalma E, Palkó A, Fejes Z Abstract The prevalence of testicular adrenal rest tumors differs in different manifestations of congenital adrenal hyperplasia. Tactile, usually bilateral, testicular abnormalities occur in 90-95% of cases as a result of adrenal cortical hyperplasia caused by the lack of the enzyme 21-hydroxylase. Adrenal rest tumors, although well known lesions, require a multidisciplinary approach to their diagnosis and treatment. Cooperation between the endocrinological, urological, pathological and radiological professions is of paramount importance. If detected at an early stage, adequate ...
Source: Orvosi Hetilap - April 1, 2020 Category: General Medicine Authors: Brzózka Á, Kuthi L, Hajdú E, Magony S, Király IE, Kincses ZT, Szatmári A, Szalma E, Palkó A, Fejes Z Tags: Orv Hetil Source Type: research

Editorial: Congenital Adrenal Hyperplasia, Unresolved Issues and Implications on Clinical Management
(Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - March 31, 2020 Category: Endocrinology Source Type: research

Gender Identity and Assignment Recommendations in Disorders of Sex Development (DSD) Patients: 20 years ’ Experience and Challenges
Conclusion: We present 20 years of experience in DSD gender assignment recommendations, and find that the etiologic diagnosis, psychiatric gender orientation, expectation of the family, phallus length and Prader stage were effective in the gender assignment in DSD cases (especially the first two substances). It is important to share these experiences among the medical professionals who are routinely charged with this difficult task in multidisciplinary councils. PMID: 32212580 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 28, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

How Mutations Affect Structural Characteristics and Substrate Binding of CYP21A2? An Investigation by Molecular Dynamics Simulations
Phys. Chem. Chem. Phys., 2020, Accepted Manuscript DOI: 10.1039/D0CP00763C, PaperBai-Hui Lin, Hong-Xing Zhang, Qing-Chuan Zheng Congenital adrenal hyperplasia (CAH) is one of the most frequent inborn errors of metabolism, inherited in an autosomal recessive trait. Above 95% cases of CAH are caused by mutations in... The content of this RSS Feed (c) The Royal Society of Chemistry (Source: RSC - Phys. Chem. Chem. Phys. latest articles)
Source: RSC - Phys. Chem. Chem. Phys. latest articles - March 27, 2020 Category: Chemistry Authors: Bai-Hui Lin Source Type: research

Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency
Horm Metab Res 2020; 52: 186-193 DOI: 10.1055/a-1100-706617-Hydroxylase-deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The aim of the work was to study clinical, biochemical, and the follow up of 17OHD patients and evaluate the function and structure of CYP17A1 mutations. Brazilian patients (three 46, XX and four 46, XY; 17±1.9 years) with combined 17-hydroxylase/17,20-lyase deficiency were evaluated. CYP17A1 gene was sequenced. Functional analysis was performed transfecting COS7 cells, which were exposed to progesterone or 17α-hydroxypregnolone ...
Source: Hormone and Metabolic Research - March 25, 2020 Category: Endocrinology Authors: Coeli-Lacchini, Fernanda Borchers Mermejo, Livia M. Bodoni, Aline Faccioli Elias, Lucila Leico Kagohara Silva Jr, Wilson Ara újo Antonini, Sonir R. Moreira, Ayrton C. de Castro, Margaret Tags: Endocrine Care Source Type: research

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.
CONCLUSIONS: There are currently limited trials comparing the efficacy and safety of different glucocorticoid replacement regimens for treating 21-hydroxylase deficiency CAH in children and adults and we were unable to draw any firm conclusions based on the evidence that was presented in the included trials. No trials included long-term outcomes such as quality of life, prevention of adrenal crisis, presence of osteopenia, presence of testicular or ovarian adrenal rest tumours, subfertility and final adult height. There were no trials examining a modified-release formulation of HC or use of 24-hour circadian continuous sub...
Source: Cochrane Database of Systematic Reviews - March 19, 2020 Category: General Medicine Authors: Ng SM, Stepien KM, Krishan A Tags: Cochrane Database Syst Rev Source Type: research

A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
Abstract RCCX haplotypes with two copies of the CYP21A2 gene and one copy of the CYP21A1P pseudogene have been widely described in different populations. In most cases, the CYP21A2-like gene downstream of the TNXA gene showed a wild-type sequence or the c.293-13A/C > G variant while the CYP21A2 gene next to TNXB carried the p.(Gln319Ter) variant. Here is the discovery of a novel rare CYP21A2 haplotypes detected in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH). The molecular family study was performed clarifying the previously found phenotype-genotype discrepancy. ...
Source: Molecular Biology Reports - March 17, 2020 Category: Molecular Biology Authors: Concolino P Tags: Mol Biol Rep Source Type: research

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study with 241,083 Infants
Conclusion: Turkish neonatal CAH screening effectively leads to the early diagnosis of 21-OHD and 11β-OHD by the use of steroid profiling as a second-tier test allowing for better care of these patients in the future. PMID: 32157855 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Good overall behavioural adjustment in children and adolescents with classic congenital adrenal hyperplasia
ConclusionChildren/adolescents with CAH showed good overall adjustment. The clinical significance of the parentally perceived increase in social problems in children/adolescents with CAH requires further investigation. The findings underline the importance of psychological support for children/adolescents with a chronic condition. (Source: Endocrine)
Source: Endocrine - March 9, 2020 Category: Endocrinology Source Type: research

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
(Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - March 4, 2020 Category: Endocrinology Source Type: research

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene
Exp Clin Endocrinol Diabetes DOI: 10.1055/a-1108-1419Congenital Adrenal Hyperplasia is a group of genetic autosomal recessive disorders that affects adrenal steroidogenesis in the adrenal cortex. One of the most common defects associated with Congenital Adrenal Hyperplasia is the deficiency of 21-hydroxylase enzyme, responsible for the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone. The impairment of cortisol and aldosterone production is directly related to the clinical form of the disease that ranges from classic or severe to non-classic or mild late onset. The deficiency...
Source: Experimental and Clinical Endocrinology and Diabetes - March 4, 2020 Category: Endocrinology Authors: Carvalho, Berta Marques, C.Joana Santos-Silva, Rita Fontoura, Manuel Carvalho, Davide Carvalho, Filipa Tags: Review Source Type: research

Serum Fetuin-A and Insulin Levels in Classic Congenital Adrenal Hyperplasia
Horm Metab Res DOI: 10.1055/a-1116-2173Androgens play a pivotal role in non-reproductive organs such as the kidney, heart, liver, and pancreas. As androgen receptors are expressed in pancreatic and liver cells, excess testosterone can result in hypersecretion of insulin and fetuin-A, a protein produced in the liver. The expression of fetuin-A, a natural inhibitor of tyrosine kinase activity in muscle and liver, leads to insulin resistance. In addition, insulin and fetuin-A levels are thought to be affected by drugs such as glucocorticoids (GCs) and fludrocortisone. However, whether fetuin-A and insulin levels are affected ...
Source: Hormone and Metabolic Research - February 27, 2020 Category: Endocrinology Authors: Kurnaz, Erdal Çetinkaya, Semra Özalkak, Şervan Bayramo ğlu, Elvan Demirci, G ülşah Öztürk, Hasan Serdar Erdeve, Şenay Savaş Aycan, Zehra Tags: Endocrine Care Source Type: research

Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
European Journal of Human Genetics, Published online: 18 February 2020; doi:10.1038/s41431-020-0587-yCorrection: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 18, 2020 Category: Genetics & Stem Cells Authors: Soara Menab ò Seher Polat Lilia Baldazzi Alexandra E. Kulle Paul-Martin Holterhus Joachim Gr ötzinger Flaminia Fanelli Antonio Balsamo Felix G. Riepe Source Type: research

Lipoid Congenital Adrenal Hyperplasia due to Steroid Acute Regulatory Protein (STAR) Variants in Three Chinese Patients
Publication date: Available online 14 February 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Hong Chen, Qianru Zhang, Ruimin Chen, Xin Yuan, Xiangquan Lin, Xiaohong Yang, Ying ZhangAbstractCongenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzymatic defects in steroid synthesis. Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of CAH, insofar as the initial step of steroid synthesis is impaired. Variants in the steroid acute regulatory (STAR) gene are responsible for LCAH. To describe the clinical and genetic charac...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 15, 2020 Category: Biochemistry Source Type: research

Management of Infants with Congenital Adrenal Hyperplasia.
Abstract Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manage associated morbidities. The current review focuses on follow-up and management of infants diagnosed with classical CAH pertinent to Indian context. Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy and childhood. Fludrocortisone is recommended for all infants with classical CAH. All infants should be monitored as per protocol for disease and treatment related complications. The role of prenatal steroids to pregn...
Source: Indian Pediatrics - February 15, 2020 Category: Pediatrics Authors: Dabas A, Vats P, Sharma R, Singh P, Seth A, Jain V, Batra P, Gupta N, Kumar R, Kabra M, Kapoor S, Yadav S Tags: Indian Pediatr Source Type: research

Normal size of the fetal adrenal gland on prenatal magnetic resonance imaging
ConclusionNormal sizes and signal intensities for adrenal glands are reported. Visibility of adrenal glands on T2-W images was 90.3 –97.2% up to 30 weeks but declined thereafter. Visibility on T1-W images increased in the third trimester. Adrenal gland sizes increased with gestational age. (Source: Pediatric Radiology)
Source: Pediatric Radiology - February 14, 2020 Category: Radiology Source Type: research

No Evidence for Enhancement of Spatial Ability with Elevated Prenatal Androgen Exposure in Congenital Adrenal Hyperplasia: A Meta-Analysis.
Abstract Spatial abilities contribute to life and occupational competencies, and certain spatial skills differ, on average, between males and females, typically favoring males when differences occur. Factors contributing to spatial skills could include prenatal as well as experiential/cultural influences, with biological and social influences likely interacting and difficult to disentangle. This meta-analysis examined the potential influence of prenatal androgen exposure on spatial skill by examining studies of patients with congenital adrenal hyperplasia (CAH). CAH involves elevated adrenal androgens prenatally, ...
Source: Archives of Sexual Behavior - February 12, 2020 Category: Psychiatry & Psychology Authors: Collaer ML, Hines M Tags: Arch Sex Behav Source Type: research

Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia
To evaluate the clinical impact of a congenital adrenal hyperplasia (CAH) newborn screening program and incremental costs relative to benefits in screened vs unscreened infants. We hypothesized that screening would lead to clinical benefits and would be cost effective. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - February 7, 2020 Category: Pediatrics Authors: Danya A. Fox, Rebecca Ronsley, Asif R. Khowaja, Alon Haim, Hilary Vallance, Graham Sinclair, Shazhan Amed Tags: Original Articles Source Type: research

Transformation of the female genitalia in congenital adrenal hyperplasia: MRI study
In this report, we aim to define the different degrees of structural abnormality affecting the female genitalia in cases of CAH by using the multiplanar capabilities and high soft tissue resolution of MRI. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - February 6, 2020 Category: Surgery Authors: Amr Abdelhamid AbouZeid, Shaimaa Abdelsattar Mohammad Source Type: research

Assessment of health-related quality of life in Egyptian children and adolescents with congenital adrenal hyperplasia
Journal Name: Journal of Pediatric Endocrinology and Metabolism Volume: 33 Issue: 2 Pages: 295-304 (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - February 5, 2020 Category: Endocrinology Source Type: research

Adrenocortical hyperplasia: a multifaceted disease
Publication date: Available online 4 February 2020Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Isabelle Bourdeau, Stéfanie Parisien-La Salle, André LacroixAbstractAdrenocortical hyperplasia may develop in different contexts. Primary adrenal hyperplasia may be secondary to primary bilateral macronodular adrenocortical hyperplasia (PBMAH) or micronodular bilateral adrenal hyperplasia (MiBAH) which may be divided in primary pigmented nodular adrenocortical disease (PPNAD) and isolated micronodular adrenocortical disease (i-MAD). Both lead to oversecretion of cortisol and...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - February 4, 2020 Category: Endocrinology Source Type: research

Selective LC-MRM/SIM-MS based profiling of adrenal steroids reveals metabolic signatures of 17α-hydroxylase deficiency
Publication date: Available online 31 January 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Chaelin Lee, Jung Hee Kim, Sun Joon Moon, Jaeyoon Shim, Hugh I. Kim, Man Ho ChoiABSTRACTAdrenal steroids are generated in the adrenal cortex and metabolized by various enzymes such as hydroxylases, dehydrogenases, and reductases. Determining the comprehensive metabolic signatures of adrenal steroids can provide insight into their metabolic functions and roles in the pathophysiology of adrenal diseases, including Cushing’s syndrome (CS) and congenital adrenal hyperplasia (CAH). To this end, we ...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 1, 2020 Category: Biochemistry Source Type: research

Assessment of health-related quality of life in Egyptian children and adolescents with congenital adrenal hyperplasia
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - February 1, 2020 Category: Endocrinology Source Type: research

Women with non-classic congenital adrenal hyperplasia have gender, sexuality and quality of life features similar to those of non-affected women
Endocrine Practice, Ahead of Print. (Source: Endocrine Practice)
Source: Endocrine Practice - January 22, 2020 Category: Endocrinology Authors: Anat Segev-Becker Roi Jacobson Ronnie Stein Ori Eyal Asaf Oren Anita Schachter-Davidov Galit Israeli Yael Lebenthal Naomi Weintrob Source Type: research

Women with nonclassic congenital adrenal hyperplasia have gender, sexuality, and quality-of-life features similar to those of nonaffected women
Endocrine Practice,Volume 26, Issue 5, Page 535-542, May 2020. (Source: Endocrine Practice)
Source: Endocrine Practice - January 22, 2020 Category: Endocrinology Authors: Anat Segev-Becker Roi Jacobson Ronnie Stein Ori Eyal Asaf Oren Anita Schachter-Davidov Galit Israeli Yael Lebenthal Naomi Weintrob Source Type: research