Congenital Adrenal Hyperplasia Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Cardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia
Hyperandrogenism and supraphysiologic glucocorticoid replacement may lead to subclinical atherosclerosis in people with congenital adrenal hyperplasia (CAH) and predispose the development of cardiovascular dis... (Source: BMC Endocrine Disorders)
Source: BMC Endocrine Disorders - November 2, 2023 Category: Endocrinology Authors: Tania M. Espinosa Reyes, Alba Katherine Pes ántez Velepucha, Julio Oscar Cabrera Rego, Wendy Valdés Gómez, Emma Domínguez Alonso and Henrik Falhammar Tags: Research Source Type: research

Hyperandrogenism and Cardiometabolic Risk in Pre- and Postmenopausal Women-What Is the Evidence?
J Clin Endocrinol Metab. 2023 Oct 27:dgad590. doi: 10.1210/clinem/dgad590. Online ahead of print.ABSTRACTHyperandrogenism in women, such as polycystic ovary syndrome, ovarian hyperthecosis, congenital adrenal hyperplasia, and androgen-secreting tumors, are all associated with increased prevalence of cardiovascular risk factors that include type 2 diabetes, hypertension, dyslipidemia, and metabolic syndrome. However, it is not clear whether this also implies enhanced risk of cardiovascular disease and mortality. Furthermore, the involvement of obesity and menopausal status for cardiometabolic risk in these women has not bee...
Source: The Journal of Clinical Endocrinology and Metabolism - October 27, 2023 Category: Endocrinology Authors: Angelica Lind én Hirschberg Source Type: research

Predictors of cardiovascular morbidities in adults with 21-hydroxylase deficiency congenital adrenal hyperplasia
CONCLUSION: Cardiometabolic morbidities are prevalent among adults with 21OHD. Hypertension, age, and glucocorticoid exposure are the main predictive factors of established cardiovascular diseases in our cohort.PMID:37878953 | DOI:10.1210/clinem/dgad628 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - October 25, 2023 Category: Endocrinology Authors: Suranut Charoensri Richard J Auchus Source Type: research

Increased Prevalence of Accidents and Injuries in Congenital Adrenal Hyperplasia: A Population-Based Cohort Study
CONCLUSIONS: Patients with CAH had an increased prevalence of both injuries and accidents, especially in females and in those born before the neonatal screening program. Patients with NC phenotype were hardly affected.PMID:37862468 | DOI:10.1210/clinem/dgad624 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - October 20, 2023 Category: Endocrinology Authors: Henrik Falhammar Angelica Lind én Hirschberg Agneta Nordenskj öld Henrik Larsson Anna Nordenstr öm Source Type: research

Therapeutic management of congenital forms of endocrine hypertension
Eur J Endocrinol. 2023 Oct 17:lvad140. doi: 10.1093/ejendo/lvad140. Online ahead of print.ABSTRACTCongenital forms of endocrine hypertension are rare and potentially life-threatening disorders, primarily caused by genetic defects affecting adrenal steroid synthesis and activation pathways. These conditions exhibit diverse clinical manifestations, which can be distinguished by their unique molecular mechanisms and steroid profiles. Timely diagnosis and customized management approach are crucial to mitigate unfavorable outcomes associated with uncontrolled hypertension and other related conditions. Treatment options for thes...
Source: European Journal of Endocrinology - October 17, 2023 Category: Endocrinology Authors: Suranut Charoensri Richard J Auchus Source Type: research

Hormonal control during infancy and testicular adrenal rest tumor development in CAH males - a retrospective multi-center cohort study
CONCLUSION: A delayed CAH diagnosis of more than 1 year versus CAH diagnosis within one month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life.PMID:37837609 | DOI:10.1093/ejendo/lvad143 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 14, 2023 Category: Endocrinology Authors: Mariska A M Schr öder Mihaela Neac şu Bas P H Adriaansen Fred C G J Sweep S Faisal Ahmed Salma R Ali T ânia A S S Bachega Federico Baronio Niels Holtum Birkeb æk Christiaan de Bruin Walter Bonfig Jillian Bryce Maria Clemente Martine Cools Heba Elsedfy Source Type: research

Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders
Clin Genet. 2023 Oct 11. doi: 10.1111/cge.14434. Online ahead of print.ABSTRACTHaplotype-based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive single-gene disorders in proband families. However, a comprehensive exploration of critical factors influencing the assay performance, such as fetal fraction, informative single nucleotide polymorphism (SNP) count, and recombination events, has yet to be performed. It is critical to identify key factors affecting NIPD performance, including its accuracy and success rate, and their impact on clinical diagnostics to guide clinical practice. We conducted a pro...
Source: Clinical Genetics - October 12, 2023 Category: Genetics & Stem Cells Authors: Lingrong Kong Shaojun Li Zhenhua Zhao Jun Feng Xinyu Fu Huanyun Li Jingqi Zhu Yanan Wang Weiqin Tang Chao Yuan Feifei Li Xiujuan Han Di Wu Xiangdong Kong Luming Sun Source Type: research

Testicular Adrenal Rest Tumors – Epidemiology, Diagnosis And Treatment
Testicular adrenal rest tumors (TART) are common in males suffering from congenital adrenal hyperplasia (CAH). Correct and timely diagnosis is important for differential diagnosis with malignant testis tumors, related infertility and as TART may worsen in time, especially in the absence of adequate and continuous hormonal control. The rarity of the disease, predominance of small cohorts and case reports and research heterogeneity (concerning type of CAH, patients ´ age and specific focus of the paper) complicate the understanding of this condition. (Source: Journal of Pediatric Urology)
Source: Journal of Pediatric Urology - October 7, 2023 Category: Urology & Nephrology Authors: Lisieux Eyer de Jesus, Ana Paula Paz de Oliveira, Luiza Coutinho Porto, Samuel Dekermacher Tags: Review Article Source Type: research

Total testosterone cut-off value indicating androgen-secreting tumor in premenopausal women with hirsutism
CONCLUSIONS: At the TT level, a two-fold increase CULN in FIPH indicates an ASTM source. In addition, ASR after LDDST is a useful parameter in the exclusion of ASTM sources in the same patient population.PMID:37782181 | DOI:10.26355/eurrev_202309_33791 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - October 2, 2023 Category: Drugs & Pharmacology Authors: M G üneş E G üneş F Öztürk Source Type: research