Non-Classical Congenital Adrenal Hyperplasia in Childhood

Abstract

Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in the later stages of life. This review paper will include information on clinical findings, symptoms, diagnostic approaches, and treatment modules of NCCAH.

Pubertad precoz por hiperplasia adrenal congénita. Reporte de caso

“…It´s considered positive when pre-stimulation levels are >5 ng/mL (15nmol/L) and post-stimulation levels are >15 ng/mL (45 nmol/L). 8,17,18 In the reported patient, the baseline 17-OHP level was normal, and was only elevated on the ACTH test, which indicated non-classic CAH. Testosterone and delta 4-androstenedione values were higher than expected for the pre-pubertal stage, which contributed to the diagnosis of CAH and its corresponding decrease after treatment.…”

“…The result is considered abnormal when levels are above the 97 th percentile for age. 6,8,11 Unlike classic CAH, random 17-OHP levels in non-classic CAH may be in the normal range; therefore, the ACTH stimulation test is the gold standard for diagnosis 18,19 . It´s considered positive when pre-stimulation levels are >5 ng/mL (15nmol/L) and post-stimulation levels are >15 ng/mL (45 nmol/L).…”

“…Glucocorticoids are administered for the treatment of non-classic CAH in patients with accelerated bone age, virilization, and premature or rapid progression pubarche. 9,17,18 Some of the objectives of this treatment in girls are achieving adequate growth rate and the proper onset of puberty, as well as avoiding accelerated skeletal maturation, the reduction of the expected mid-parental height, and psychological alterations. In adolescents, the treatment aims to avoid irregular menstrual cycles, hirsutism, and acne.…”

“…Likewise, long-term corticosteroid use can prevent frequent situations caused by this pathology, such as infertility, abortions, fetal death, psychiatric problems, decreased bone density, obesity, dyslipidemia, insulin resistance, hypertension, diabetes, among others. 18,19 It is worth mentioning that the growth rate increases in precocious puberty. Therefore, one of the best ways to assess whether the treatment is appropriate is by evaluating this aspect.…”

Low prevalence of organic pathology in a predominantly black population with premature adrenarche: need to stratify definitions and screening protocols

“…Recent literature has also described 11ketotestosterone as a key bioactive androgen in premature adrenarche [1,2]. The clinical condition of premature adrenarche (PA) is defined as the appearance of clinical signs of androgen action before the age of 8 years in girls or 9 years in boys and absence of breast development in girls or genital enlargement in boys [3,4]. PA is the result of early activation of the zona reticularis in the adrenal gland resulting in a rise of androgens [5].…”