Adrenal Hyperplasia, Congenital
Conditions
Keywords
congenital adrenal hyperplasia, short stature, growth hormone treatment
Brief summary
Congenital adrenal hyperplasia (CAH) is a genetic rare disease, which alters the adrenal production of gluco and mineralo corticoids. The treatment consists in supplementing children using hydrocortisone. Despite care for these children has improve substantially across decades, short adult height still remains an important consequence of the disease. About 20 % of patients have an AH below 2 standard deviations compared to their expected height. In the OPALE model study, the investigators have collected data from a cohort of 496 French patients, born between 1970 and 1991 and with a known genotype. Using their age, sex, growth, disease, bone maturation and pubertal data, they have built a model which allows to predict their AH using data available at 8 years of age. This model has shown that the currently used formula to calculate the predicted AH (Bayley Pineau's method) is not applicable to children with CAH. In this project, the investigators plan to use the prediction model to compare the AH in patients who have received GH treatment to their predicted AH using the model. The hypothesis is that GH improves the AH in such patients. Existing cohorts have shown improved growth celerity, and growth expectation using the Bayley-Pineau formula), but this has not been shown on the actual AH. This study will allow to reinforce the investigators' hypothesis.
Interventions
None listed
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 50 Years
Healthy volunteers
No
Inclusion criteria
Patients with CAH, born between 1970 and 1998, having received GH treatment for a minimal one year duration.
Exclusion criteria
* Patients with chronic any growth altering disease, Turner syndrome or other genetic anomaly; 8-year wrist Xray and adult height should be available to allow the use of the OPALE model prediction.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Adult height (AH) gain | up to 18 years | Difference between AH predicted by the OPALE model, and observed AH defined as (i) the height recorded after age 20 in boys or 18 in girls; (ii) the height recorded when bone age (BA) is ≥ 18 years in boys and 16 years in girls (99.6% of AH) (10); or (iii) the height measured after growth velocity drop to ≤ 1 cm/year |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of treatment withdrawal due to adverse events | up to 6 years of GH treatment | Safety |
Countries
France
Outcome results
None listed