Variability in occurrence of adrenal crisis in CAH

The incidence of adrenal crisis in young congenital adrenal hyperplasia (CAH) patients varies greatly, depending on the treating hospital, according to a study published inClinical Endocrinology.Healio
Source: Society for Endocrinology - Category: Endocrinology Source Type: news

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CONCLUSIONS: The screening tool to distinguish non-classic adrenal hyperplasia from PCOS is the measurement of 17-hydroxyprogesterone levels. The basal levels of 17-hydroxyprogesterone may overlap, but ACTH stimulation testing can distinguish the two entities. In this review these two common endocrine disorders are discussed in an effort to unveil their commonalities and to illuminate their shadowed distinctive characteristics.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
ConclusionsDespite significant improvements over the last years in achieving fertility in female patients with SV CAH, it is highly dependent upon the severity of virilization and the metabolic control. The role of P30L mutation in infertility and unsuccessfully assisted reproduction remains to be elucidated.
Source: European Journal of Medical Research - Category: Research Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
Publication date: September 2019Source: The Journal of Steroid Biochemistry and Molecular Biology, Volume 192Author(s): Alexander Gaudl, Jürgen Kratzsch, Uta CeglarekAbstractSteroid analysis by LC–MS/MS in daily clinical routine diagnostics requires high-throughput conditions including fast chromatographic separation. Hereby, signal interferences may occur due to limited specificity in complex biologic matrices. During the last three years of routine steroid analysis in our laboratory and roughly 50,000 measurements, about 1% was affected by interferences, mainly serum cortisol (>90%) and dried blood 17&alpha...
Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research
We present the case of a patient with Swyer syndrome, and compare them with other cases of patients with a 46 XY karyotype, phenotypically female, such as in Congenital Adrenal Hyperplasia from deficiency of the 17 α hydroxylase/ 17 – 20 Lyase enzyme and in the Congenital Androgenic Insensitivity Syndrome.
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Publication date: May 2019Source: European Urology Supplements, Volume 18, Issue 2Author(s): B. Stoianovic, M. Bizic, M. Bencic, V. Vukadinovic, G. Korac, M. Djordjevic
Source: European Urology Supplements - Category: Urology & Nephrology Source Type: research
Νon-classical congenital adrenal hyperplasia (NCCAH) is considered to be a common monogenic inherited disease, with an incidence range from 1:500 to 1:100 births worldwide. However, despite the high incidence, there is a low genotype-phenotype correlation, which explains why NCCAH diagnosis is usually delayed or even never carried out, since many patients remain asymptomatic or are misdiagnosed as suffering from other hyperandrogenic disorders. For affected adolescent and adult women, it is crucial to investigate any suspicion of NCCAH and determine a firm and accurate diagnosis. The Synacthen test is a prerequisite in ...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Introduction: The aim of this study was to determine the prevalence of testicular-adrenal rest tumors (T-ARTs) in patients with congenital adrenal hyperplasia (CAH), and to evaluate the related ultrasound (US) features, hormonal profiles, and semen parameters. Therefore, we attempted to understand the potential impact of adrenocorticotropic hormone (ACTH) on the persistence or disappearance of T-ART. Methods: We conducted a longitudinal cohort study including patients with CAH who were undergoing treatment with cortisone and, when indicated fludrocortisone replacement therapy. We performed andrological examinations, US of...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Publication date: Available online 31 May 2019Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Alexander Gaudl, Jürgen Kratzsch, Uta CeglarekAbstractSteroid analysis by LC-MS/MS in daily clinical routine diagnostics requires high-throughput conditions including fast chromatographic separation. Hereby, signal interferences may occur due to limited specificity in complex biologic matrices. During the last three years of routine steroid analysis in our laboratory and roughly 50,000 measurements, about 1% was affected by interferences, mainly serum cortisol (>90%) and dried blood 17α-hy...
Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
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