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Linear Growth of Children With Congenital Adrenal Hyperplasia

2019-09-15 03:11:25 | BioPortfolio

Summary

The congenital adrenal hyperplasias (CAHs) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. Three specific enzyme deficiencies are associated with virilization of affected women. The most common form is 21-hydroxylase deficiency (21-OHD) due to mutations in the 21-hydroxylase (CYP21A2) gene. Other virilizing forms include 3b-hydroxysteroid dehydrogenase type 2 (HSD3B2) and 11b-hydroxylase deficiencies associated with mutations in the HSD3B2 and 11b-hydroxylase (CYP11B1) genes, respectively.

Description

It has been reported that approximately one child in every 18000 born in Great Britain has CAH. In North America, the incidence varies from 1:15000 to 1:16000. The reported rates of CAH have been as high as 1:280 among the Yupik people of Alaska and 1:2100 on the French island of Réunion in Indian ocean; both of these populations are geographically isolated. The reported incidence of CAH in the two Brazilian states that have routinely included CAH in their public newborn screening programs is 1:11655 in the South (Santa Catarina) and 1:10325 in Midwest (Goiás).

Salt-losing CAH accounts for about three quartes of cases reported and non-salt losing CAH for one quarter. Non-classic is more common ;Estimated as 1 in 1000-2000 in white populations. It is more frequent in certain ethnic groups, such as the Ashkenazi Jewish population. The mild non-classic form is a common cause of hyperandrogenism.

Treatment of classic 21-OHD consists of replacement doses of gluco- (GC) and mineralocorticoids aiming to reduce excess androgen, and to allow adequate linear growth. However, several series report that growth in these children is below expectation, as compared with both the reference population and the target height (TH).

The reasons for the inadequate growth and impairment of the final height (FH) are not completely understood. A major cause is the difficulty in accomplishing a fine balance between inhibition of excess androgen production which accelerates bone maturation and adequate GC replacement itself which even at slightly supraphysiologic doses can be deleterious to growth.

Study Design

Conditions

Congenital Adrenal Hyperplasia

Status

Not yet recruiting

Source

Assiut University

Results (where available)

View Results

Links

Published on BioPortfolio: 2019-09-15T03:11:25-0400

Clinical Trials [730 Associated Clinical Trials listed on BioPortfolio]

Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets

This study will test the ability of extended release nifedipine (Procardia XL), a blood pressure medication, to permit a decrease in the dose of glucocorticoid medication children take to ...

Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia

The purpose of this study is to develop a more physiological approach to the management of children and adolescents with salt wasting Congenital Adrenal Hyperplasia. We will administer th...

Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia

This is a multicenter Phase 2, multiple dose, dose escalation study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of SPR001 in adult patients with clas...

Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia

This study was developed to determine if a combination of four drugs (flutamide, testolactone, reduced hydrocortisone dose, and fludrocortisone) can normalize growth in children with conge...

LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT)

This research uses the Liquid Chromatography coupled to tandem Mass Spectrometry (LC-MS / MS) technique on dried blot spot samples for the neonatal screening of congenital adrenal hyperpla...

PubMed Articles [2006 Associated PubMed Articles listed on BioPortfolio]

Height Velocity defined metabolic Control in Children with Congenital Adrenal Hyperplasia using urinary GC-MS Analysis.

Treatment of children with classic congenital adrenal hyperplasia (CAH) with glucocorticoids is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment i...

Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese pop...

Glucocorticoid activity of adrenal steroid precursors in untreated patients with congenital adrenal hyperplasia.

We describe clinical features and biochemical characteristics of a unique population of severely affected untreated patients with congenital adrenal hyperplasia (CAH) from an Indonesian population, wi...

Aromatase Inhibitor as Treatment for Severely Advanced Bone Age in Congenital Adrenal Hyperplasia: A Case Report.

Treatment with aromatase inhibitors (AI) is a potential novel treatment in patients with congenital adrenal hyperplasia (CAH) and advanced bone age (BA), to increase near adult height (NAH). Not much ...

Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia.

Congenital Adrenal Hyperplasia (CAH) was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17α-hydroxyprogesterone (17-OHP) levels in dried blood spot...

Medical and Biotech [MESH] Definitions

An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).

A mitochondrial cytochrome P450 enzyme that catalyzes the 11-beta-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP11B1 gene, is important in the synthesis of CORTICOSTERONE and HYDROCORTISONE. Defects in CYP11B1 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).

A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. The most common defect is in STEROID 21-HYDROXYLASE. Other defects occur in STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; or 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES).

Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion.

A microsomal cytochrome P450 enzyme that catalyzes the 17-alpha-hydroxylation of progesterone or pregnenolone and subsequent cleavage of the residual two carbons at C17 in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP17 gene, generates precursors for glucocorticoid, androgen, and estrogen synthesis. Defects in CYP17 gene cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL) and abnormal sexual differentiation.

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