Linear Growth of Children With Congenital Adrenal Hyperplasia

NCT ID: NCT04087148

Last Updated: 2019-09-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-09-24

Study Completion Date

2021-10-24

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Congenital Adrenal Hyperplasia

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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patients

patients who were diagnosed as having CAH of at least 1 y duration. and On glucocorticoid replacement therapy .

No interventions assigned to this group

controls

A comparable number of age and sex matched apparently normal children will be included as control.

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

1 Year

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Assiut University

OTHER

Sponsor Role lead

Responsible Party

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Ali Hussin Mohamed

principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Central Contacts

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Hanaa Abdellatef Mohammad, Professor of pediatrics

Role: CONTACT

01064747613

Faisal Al_khateeb Ahmed, Assistant professor

Role: CONTACT

01003856676

References

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Delle Piane L, Rinaudo PF, Miller WL. 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865. Endocrinology. 2015 Apr;156(4):1210-7. doi: 10.1210/en.2014-1879. Epub 2015 Jan 30.

Reference Type BACKGROUND
PMID: 25635623 (View on PubMed)

Silveira EL, dos Santos EP, Bachega TA, van der Linden Nader I, Gross JL, Elnecave RH. The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goias. J Pediatr Endocrinol Metab. 2008 May;21(5):455-60. doi: 10.1515/jpem.2008.21.5.455.

Reference Type BACKGROUND
PMID: 18655527 (View on PubMed)

Nunes AK, Wachholz RG, Rover MR, Souza LC. [Prevalence of disorders detected by newborn screening in Santa Catarina]. Arq Bras Endocrinol Metabol. 2013 Jul;57(5):360-7. doi: 10.1590/s0004-27302013000500005. Portuguese.

Reference Type BACKGROUND
PMID: 23896802 (View on PubMed)

Trapp CM, Oberfield SE. Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update. Steroids. 2012 Mar 10;77(4):342-6. doi: 10.1016/j.steroids.2011.12.009. Epub 2011 Dec 13.

Reference Type BACKGROUND
PMID: 22186144 (View on PubMed)

Nebesio TD, Eugster EA. Growth and reproductive outcomes in congenital adrenal hyperplasia. Int J Pediatr Endocrinol. 2010;2010:298937. doi: 10.1155/2010/298937. Epub 2010 Feb 1.

Reference Type BACKGROUND
PMID: 20148087 (View on PubMed)

Other Identifiers

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GCAH

Identifier Type: -

Identifier Source: org_study_id

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