Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Abstract

We recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests. We recommend that prenatal treatment of CAH continue to be regarded as experimental. The diagnosis rests on clinical and hormonal data; genotyping is reserved for equivocal cases and genetic counseling. Glucocorticoid dosage should be minimized to avoid iatrogenic Cushing's syndrome. Mineralocorticoids and, in infants, supplemental sodium are recommended in classic CAH patients. We recommend against the routine use of experimental therapies to promote growth and delay puberty; we suggest patients avoid adrenalectomy. Surgical guidelines emphasize early single-stage genital repair for severely virilized girls, performed by experienced surgeons. Clinicians should consider patients' quality of life, consulting mental health professionals as appropriate. At the transition to adulthood, we recommend monitoring for potential complications of CAH. Finally, we recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.

Management framework paradigms for disorders of sex development

“…The child's wellbeing and love should guide the treatment conducts, so that in the future the parents can tell their children why they made those decisions. This way, the partnership among teams and families should be the closest possible, bearing in mind that all of them are tending a central aspect of the child's personality -the development of sexuality and gender identity (12,18,34,48,(58)(59)(60)(61).…”

Female infertility and endocrinological diseases

“…21-hidroksilaz eksikliği, basit virilize ve tuz kaybettiren formu içeren klasik KAH ve klasik olmayan veya geç başlangıçlı form olarak ayrılmıştır. Klasik formun görülme insidansının 1/15,000 olduğu tahmin edilmektedir [17]. Azalmış fertilite, hiperandrojenizmin ovaryan hormonal siklusu inhibe ederek anovulasyona yol açması sonucudur.…”

The Medical Home Concept and Congenital Adrenal Hyperplasia: A Comfortable Habitat!

“…The CARES Foundation report represents the work product of parents and physicians to design the ideal comprehensive clinical setting for children with CAH. The guidelines for the patients with CAH developed by The Endocrine Society Taskforce provide more specific medical management recommendations [11]. Thus, the concept of a medical home in the context of a multidisciplinary patient-centered health care facility is hopefully on the road to implementation.…”