Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia (original) (raw)

Journal Article

,

1_Eunice Kennedy Shriver_ National Institute of Child Health and Human Development (G.P.F., D.P.M.), Maryland 20892 National Institutes of Health (NIH), Bethesda, Maryland 20892

3Centro de Investigaciones Endocrinológicas División de Endocrinología, Hospital de Niños Ricardo Gutiérrez (G.P.F.), C1425EFD Buenos Aires, Argentina

Search for other works by this author on:

,

2NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817

4Children's Hospital Los Angeles (M.S.K.), Los Angeles, California 90027

Search for other works by this author on:

,

2NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817

Search for other works by this author on:

,

2NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817

Search for other works by this author on:

,

2NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817

Search for other works by this author on:

,

2NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817

Search for other works by this author on:

,

2NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817

Search for other works by this author on:

,

2NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817

Search for other works by this author on:

1_Eunice Kennedy Shriver_ National Institute of Child Health and Human Development (G.P.F., D.P.M.), Maryland 20892 National Institutes of Health (NIH), Bethesda, Maryland 20892

2NIH Clinical Center (M.S.K., N.S., M.N., C.V.R., S.C.H., J.C.R., R.M.H., D.P.M.), Bethesda, Maryland 20817

*Address all correspondence and requests for reprints to: Deborah P. Merke, M.D., M.S., National Institutes of Health Clinical Center, Building 10, Clinical Research Center, Room 1-2740, 10 Center Drive, Mail Stop Code 1932, Bethesda, Maryland 20892-1932.

Search for other works by this author on:

Published:

01 December 2012

• • Article contents
  • Figures & tables
  • Video
  • Audio
  • Supplementary Data
• Cite

Cite

Gabriela P. Finkielstain, Mimi S. Kim, Ninet Sinaii, Miki Nishitani, Carol Van Ryzin, Suvimol C. Hill, James C. Reynolds, Reem M. Hanna, Deborah P. Merke, Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia, The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 12, 1 December 2012, Pages 4429–4438, https://doi.org/10.1210/jc.2012-2102
Close

Navbar Search Filter Mobile Enter search term Search

Context:

Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens.

Objective:

The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients.

Design and Setting:

We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health.

Main Outcome Measure(s):

Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART).

Results:

The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height sd score was −1.0 ± 1.1 for classic vs. −0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men).

Conclusions:

Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way.

Copyright © 2012 by The Endocrine Society

You do not currently have access to this article.

Personal account

• Sign in with email/username & password
• Get email alerts
• Save searches
• Purchase content
• Activate your purchase/trial code
• Add your ORCID iD

Get help with access

Institutional access

Access to content on Oxford Academic is often provided through institutional subscriptions and purchases. If you are a member of an institution with an active account, you may be able to access content in one of the following ways:

IP based access

Typically, access is provided across an institutional network to a range of IP addresses. This authentication occurs automatically, and it is not possible to sign out of an IP authenticated account.

Sign in through your institution

Choose this option to get remote access when outside your institution. Shibboleth/Open Athens technology is used to provide single sign-on between your institution’s website and Oxford Academic.

1. Click Sign in through your institution.
2. Select your institution from the list provided, which will take you to your institution's website to sign in.
3. When on the institution site, please use the credentials provided by your institution. Do not use an Oxford Academic personal account.
4. Following successful sign in, you will be returned to Oxford Academic.

If your institution is not listed or you cannot sign in to your institution’s website, please contact your librarian or administrator.

Sign in with a library card

Enter your library card number to sign in. If you cannot sign in, please contact your librarian.

Society Members

Society member access to a journal is achieved in one of the following ways:

Sign in through society site

Many societies offer single sign-on between the society website and Oxford Academic. If you see ‘Sign in through society site’ in the sign in pane within a journal:

1. Click Sign in through society site.
2. When on the society site, please use the credentials provided by that society. Do not use an Oxford Academic personal account.
3. Following successful sign in, you will be returned to Oxford Academic.

If you do not have a society account or have forgotten your username or password, please contact your society.

Sign in using a personal account

Some societies use Oxford Academic personal accounts to provide access to their members. See below.

Personal account

A personal account can be used to get email alerts, save searches, purchase content, and activate subscriptions.

Some societies use Oxford Academic personal accounts to provide access to their members.

Viewing your signed in accounts

Click the account icon in the top right to:

• View your signed in personal account and access account management features.
• View the institutional accounts that are providing access.

Signed in but can't access content

Oxford Academic is home to a wide variety of products. The institutional subscription may not cover the content that you are trying to access. If you believe you should have access to that content, please contact your librarian.

Institutional account management

For librarians and administrators, your personal account also provides access to institutional account management. Here you will find options to view and activate subscriptions, manage institutional settings and access options, access usage statistics, and more.

Purchase

Short-term Access

To purchase short-term access, please sign in to your personal account above.

Don't already have a personal account? Register

Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia - 24 Hours access

EUR €38.00

GBP £33.00

USD $41.00

Rental

This article is also available for rental through DeepDyve.

Citations

Views

Altmetric

Metrics

Total Views 3,937

2,656 Pageviews

1,281 PDF Downloads

Since 1/1/2017

Citations

220 Web of Science

×

Email alerts

More on this topic

Related articles in PubMed

Citing articles via

• Latest

• Most Read

• Most Cited

More from Oxford Academic