Management of Childhood Congenital Adrenal Hyperplasia Management of Childhood Congenital Adrenal Hyperplasia
A new review examines the current knowledge regarding the treatment and management of congenital adrenal hyperplasia.Journal of Pediatric Health Care
Publication date: Available online 21 June 2019Source: The Journal of Molecular DiagnosticsAuthor(s): Qizong Lao, Brittany Brookner, Deborah P. MerkeMany patients with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency have CAH-X syndrome, a connective tissue dysplasia consistent with hypermobility type Ehlers Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes. CAH-X syndrome is caused by carrying CYP21A1P-TNXA/TNXB chimeric genes (CAH-X CH-1 and CH-2) on one or more alleles. Genetic analysis is cumbersome due to pseudogene interference. We developed a PCR-bas...
Many patients with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency have CAH-X syndrome, a connective tissue dysplasia consistent with hypermobility type Ehlers Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes. CAH-X syndrome is caused by carrying CYP21A1P-TNXA/TNXB chimeric genes (CAH-X CH-1 and CH-2) on one or more alleles. Genetic analysis is cumbersome due to pseudogene interference. We developed a PCR-based CAH-X high-throughput screening method to assess the copy numbers of TNXB exons 35 and 40 that is amenable to either quantitative PCR or droplet digital PCR.
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.
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.
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
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...
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.
Publication date: May 2019Source: European Urology Supplements, Volume 18, Issue 2Author(s): B. Stoianovic, M. Bizic, M. Bencic, V. Vukadinovic, G. Korac, M. Djordjevic
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 ...