Experts recommend universal screening of newborns for congenital adrenal hyperplasia

Sep 07, 2010

Today, The Endocrine Society released a new clinical practice guideline on the diagnosis and treatment of congenital adrenal hyperplasia (CAH). The guideline features a series of evidence-based clinical recommendations developed by an expert task force.

The guideline, published in the September 2010 issue of the Journal of Clinical Endocrinology & Metabolism (JCEM), a publication of The Endocrine Society, is endorsed by the American Academy of Pediatrics, Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Endocrinology, the Society for Pediatric Urology, the Androgen Excess and PCOS Society, and the CARES Foundation.

CAH is a genetic disorder of the adrenal glands that affects about one in 10,000 to 20,000 newborns, both male and female. The adrenal glands make the steroid hormones cortisol, aldosterone and androgens. In individuals with CAH, the produce an imbalance of these hormones which can result in ambiguous genitalia in newborn females, infertility and the development of masculine features such as development of pubic hair, rapid growth in both girls and boys before the expected age of puberty.

"If CAH is not recognized and treated, both girls and boys undergo rapid postnatal growth and early sexual development or, in more severe cases, neonatal salt loss and death," said Phyllis Speiser, MD, of Cohen Children's Medical Center of New York and Hofstra University School of Medicine, and chair of the task force that developed the guideline. "We recommend that every newborn be screened for CAH and that positive results be followed up with confirmatory tests."

Other recommendations from the guideline include:

  • Prenatal treatment of CAH should continue to be regarded as experimental. Such therapies should be pursued through protocols approved by Institutional Review Boards at centers capable of collecting outcomes data on a large number of patients so that risks and benefits of this treatment can be defined more precisely;
  • should rest on clinical and hormone data while genotyping should be reserved for equivocal cases and genetic counseling;
  • Regarding treatment, glucocorticoid dosage should be minimized to avoid iatrogenic Cushing's Syndrome. Mineralcorticoids and, in infants, supplemental sodium are recommended in classic CAH patients;
  • Clinicians should avoid the routine use of experimental therapies to promote growth and delay puberty, and patients should avoid adrenalectomy;
  • Early single-stage genital repair should be considered for severely virilized girls and should be performed only by surgeons experienced in this type of procedure;
  • Clinicians should consider patients' quality of life, consulting mental health professionals as appropriate;
  • At the transition to adulthood, clinicians should monitor for potential complications of CAH; and
  • Clinicians should exercise judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.
"People with classic CAH should have a team of health care providers, including specialists in pediatric endocrinology, pediatric urologic surgery (for girls), psychology and genetics," said Speiser. "Other than having to take daily medication, people with classic CAH can have a normal life."

Explore further: Firm recalls caramel apples amid listeria fears

More information: The fact sheet can be found online at: www.hormone.org/Resources/uplo… bilingual-081310.pdf

add to favorites email to friend print save as pdf

Related Stories

Clinicians Attempt to Prenatally Prevent Homosexuality

Jul 01, 2010

(PhysOrg.com) -- "This is the first we know in the history of medicine that clinicians are actively trying to prevent homosexuality," says Alice Dreger, professor of clinical medical humanities and bioethics at Northwestern ...

Women's cancer outcomes improved by surgical evaluation

Feb 12, 2009

Many women scheduled to undergo hysterectomy for pre-cancerous cell changes actually need a more comprehensive surgery, something they should discuss with a gynecologic oncologist, say researchers at the University of Alabama ...

Diabetes drug slows early-onset puberty in girls

Jun 16, 2008

In young girls at risk of early puberty and insulin resistance, the diabetes drug metformin delayed the onset of menstruation and decreased the development of insulin resistance, a risk factor for type 2 diabetes, according ...

New clinical guideline for low-back pain

Oct 02, 2007

A summary of evidence on the diagnosis and treatment of low-back pain has prompted the American Pain Society (ASP) and the American College of Physicians (ACP) to issue a new treatment guideline. The guideline is based on ...

Recommended for you

Ebola expert calls for European anti-virus 'corps'

8 hours ago

Europe will be "vulnerable" if it does not regard viruses as a "national security issue" like the United States, the microbiologist who discovered Ebola said in an interview published Friday.

In Liberia, Ebola steals Christmas

8 hours ago

The Ebola epidemic has cast a dark shadow over Christmas this year in Liberia, where small businesses are especially feeling the pinch.

Firm recalls caramel apples amid listeria fears

Dec 25, 2014

A Missouri firm is recalling its Happy Apple brand caramel apples because of the potential that they could be contaminated with listeria. The recall comes after at least three deaths and at least 29 illnesses in 10 states ...

User comments : 1

Adjust slider to filter visible comments by rank

Display comments: newest first

ZoeBrain
not rated yet Sep 09, 2010
One wonders how many of the Endocrine Society would react to having their genitalia shortened, as they recommend for newborns with CAH.
Scarring and complete loss of sensitivity are common side-effects, and some loss of sensation almost inevitable.
Female Genital Mutilation is apparently acceptable if the girl in question has CAH.

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.