Chevy Chase, MD, USA. The Endocrine Society has 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.

CAH is a genetic disorder of the adrenal glands that affects about one in 10,000 to 20,000 newborns, both male and female. Autosomal recessive conditions result from mutations of genes for enzymes needed by the adrenal gland to make the hormones cortisol and aldosterone from cholesterol (21-hydroxylase deficiency; steroidogenesis).

In individuals with CAH, the adrenal glands produce an imbalance of these hormones and an overproduction of androgen, a male sex hormone. This 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.

The guideline for diagnosis and treatment of Congenital Adrenal Hyperplasia (CAH) appears in the Journal of Clinical Endocrinology & Metabolism (JCEM). Endorsers include:

American Academy of Pediatrics (AAP)

Androgen Excess and PCOS Society (AE-PCOS)

CARES Foundation: Congenital Adrenal Hyperplasia (CAH) Research Education & Support

European Society for Paediatric Endocrinology (ESPE)

European Society of Endocrinology (ESE)

Pediatric Endocrine Society (PES)

Society for Pediatric Urology (SPU)

The Hormone Foundation, the patient education affiliate of The Endocrine Society, published a bilingual patient fact sheet that defines CAH and explains how it is diagnosed and treated.

Congenital Adrenal Hyperplasia. Patricia A. Donohoue, MD (ed.), Merrily Poth, MD (ed.), Phyllis W. Speiser, MD. The Hormone Foundation (February 2010).

[ Download PDF ]

Popular media reports often mix CAH and intersex conditions; however, the current medical consensus indicates less than 5% of people with CAH have an intersex condition when defined in strict genetic terms, a controversial claim among observors who add more weight to gender-specific visual criteria.

"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 the Steven and Alexandra Cohen Children's Medical Center of New York and the Hofstra University School of Medicine.

Speiser chaired 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 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;
  
  
• Diagnosis 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."

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TS-Si is dedicated to the acceptance, medical treatment, and legal protection of individuals correcting the misalignment of their brains and their anatomical sex, while supporting their transition into society as hormonally reconstituted and surgically corrected citizens.

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