Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency.

NCT01862380 | Unknown

• 1 other identifier: P111005
• Study Type: interventional
• Target: 41
• Locations: 1 country
• Sites: 1

Brief Summary

The risk of adrenal insufficiency in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is not well documented. Indication of cortisol replacement therapy in situation of acute stress or at long term is thus controversial. The mineralocorticoid reserve of these patients has never been evaluated. Hypothesis: The glucocorticoid and mineralocorticoid function of the adrenal glands in women with nonclassical 21-hydroxylase deficiency is comparable with the adrenal functions of healthy age- sexe- and BMI-matched subjects.

Conditions

Adrenal Hyperplasia, Congenital; 21-hydroxylase Deficiency

Keywords

Adrenocortical function; Adrenal hyperplasia, Congenital; 21-hydroxylase; deficiency; cortisol; replacement therapy; Woman; Healthy people

Outcome Measures

Primary Outcomes (1)

• Maximal plasma cortisol concentration

  Repeated measures 15, 30, 45, 60, 90 and 120 minutes after insulin IV injection

  Before and up to two hours after Insulin injection (Insulin tolerance test)

Secondary Outcomes (6)

• % of patients with maximal plasma cortisol concentration >=18microg/dl

  Before and up to two hours after Insulin injection (Insulin tolerance test)

• Maximal plasma ACTH concentration

  Before and up to two hours after Insulin injection (Insulin tolerance test)

• Maximal salivary cortisol concentration

  Before and up to two hours after Insulin injection (Insulin tolerance test)

• Variation (change from baseline) of plasma rennin and plasma aldosterone concentration

  Before and up to 24 hours after oral furosemide administration (Sodium depletion test)

• Variation (change from baseline) of urinary aldosterone concentration

  Before and up to 24 hours after oral furosemide administration (Sodium depletion test)

Study Arms (2)

Cases

EXPERIMENTAL

Functional explorations of cortisol and aldosterone production during stimulation by ITT and sodium depletion respectively in female patients with non classical 21-hydroxylase deficiency.

Other: Functional explorations

Control

EXPERIMENTAL

Functional explorations of cortisol and aldosterone production during stimulation by ITT and sodium depletion respectively in healthy female controls.

Other: Functional explorations

Interventions

Functional explorations OTHER

Functional explorations of cortisol and aldosterone production during stimulation by ITT and sodium depletion respectively

Cases

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• Groupe of patients:
• women aged 18-50 years with nonclassical 21-hydroxylase deficiency with homozygous or compound heterozygous mutations of CYP21A2 and plasma 17-hydroxyprogesterone concentration after stimulation with synacthen \>= 10ng/mL
• Groupe of healthy volunteers :
• age matched female healthy volunteers with plasma 17-hydroxyprogesterone concentration after stimulation with synacthen \< 2ng/mL

You may not qualify if:

• treatment with oral or local glucocorticoids \< 1 year
• oral estroprogestative contraception \< 3 months
• spironolactone \< 3 months
• cyproterone acetate \< 3 months
• treatment modifying the activity of the renin - angiotensine - aldosterone system \< 2 weeks
• pregnancy and lactation

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Assistance Publique - Hôpitaux de Paris, Bicêtre Hospital

Le Kremlin-Bicêtre, 94 275, France

Location

Related Publications (1)

• Kamenicky P, Blanchard A, Lamaziere A, Piedvache C, Donadille B, Duranteau L, Bry H, Gautier JF, Salenave S, Raffin-Sanson ML, Genc S, Pietri L, Christin-Maitre S, Thomas J, Lorthioir A, Azizi M, Chanson P, Le Bouc Y, Brailly-Tabard S, Young J. Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz005. doi: 10.1210/clinem/dgz005.

  PMID: 31529070 DERIVED

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital; Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders

Study Officials

• Peter Kamenicky, MD, PhD

  Assistance Publique Hôpitaux de Paris - Bicêtre Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 22, 2013
• First Posted: May 24, 2013
• Study Start: February 1, 2013
• Primary Completion: December 1, 2015
• Study Completion: November 1, 2016
• Last Updated: September 29, 2016

Record last verified: 2016-09

Locations

FR (1)