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Trial record 14 of 108 for:    "21-hydroxylase deficiency"

Linear Growth of Children With Congenital Adrenal Hyperplasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04087148
Recruitment Status : Not yet recruiting
First Posted : September 12, 2019
Last Update Posted : September 12, 2019
Information provided by (Responsible Party):
Ali Hussin Mohamed, Assiut University

Brief 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.

Condition or disease
Congenital Adrenal Hyperplasia

Detailed 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.

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Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Linear Growth of Children With Congenital Adrenal Hyperplasia.
Estimated Study Start Date : September 24, 2019
Estimated Primary Completion Date : October 24, 2020
Estimated Study Completion Date : October 24, 2021

patients who were diagnosed as having CAH of at least 1 y duration. and On glucocorticoid replacement therapy .
A comparable number of age and sex matched apparently normal children will be included as control.

Primary Outcome Measures :
  1. factors affecting linear growth in children with CAH. [ Time Frame: 6 months ]
    by using appropriate growth charts and doing follow up wrist x-ray .

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
• pediatric patients with congenital adrenal hyperplasia who are taking glucocorticoid replacement therapy and attending Endocrine unit of Assiut University Children Hospital within one year.

Inclusion criteria:

  • Age: 1-18 y.
  • Both sexes.
  • All patients who were diagnosed as having CAH of at least 1 y duration.
  • On glucocorticoid replacement therapy .

Exclusion criteria:

  • Patients diagnosed as CAH for less than 1 year duration.
  • Patients with deficient data at the time of diagnosis.
  • Patients missed for follow up.
  • Syndromatic patients.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04087148

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Contact: Hanaa Abdellatef Mohammad, Professor of pediatrics 01064747613
Contact: Faisal Al_khateeb Ahmed, Assistant professor 01003856676

Sponsors and Collaborators
Assiut University

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Responsible Party: Ali Hussin Mohamed, principal Investigator, Assiut University Identifier: NCT04087148     History of Changes
Other Study ID Numbers: GCAH
First Posted: September 12, 2019    Key Record Dates
Last Update Posted: September 12, 2019
Last Verified: September 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Adrenocortical Hyperfunction
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Gland Diseases
Endocrine System Diseases
Gonadal Disorders
Epinephryl borate
Adrenergic alpha-Agonists
Adrenergic Agonists
Adrenergic Agents
Neurotransmitter Agents
Molecular Mechanisms of Pharmacological Action
Physiological Effects of Drugs
Adrenergic beta-Agonists
Bronchodilator Agents
Autonomic Agents
Peripheral Nervous System Agents
Anti-Asthmatic Agents
Respiratory System Agents