Abstract
Congenital adrenal hyperplasia (CAH) is an inherited disorder caused by the absence or severely impaired activity of steroidogenic enzymes involved in cortisol biosynthesis. More than 90% of cases result from 21-hydroxylase deficiency (21OHD). To prevent life-threatening adrenal crisis and to help perform appropriate sex assignments for affected female patients, newborn screening (NBS) programs for the classical form of CAH have been introduced in numerous countries. In Japan, the NBS for CAH was introduced in 1989, following the screenings for phenylketonuria and congenital hypothyroidism. In this review, we aim to summarize the experience of the past 30 years of the NBS for CAH in Japan, composed of four parts, 1: screening system in Japan, 2: the clinical outcomes for the patients with CAH, 3: various factors that would impact the NBS system, including timeline, false positive, and LC-MS/MS, 4: Database composition and improvement of the screening program.
Highlights
Congenital adrenal hyperplasia (CAH) is an inherited disorder caused by the loss or severely impaired activity of steroidogenic enzymes involved in cortisol biosynthesis (Figure 1A,B) [1,2]
The classical form is further subdivided into two subtypes, the severest, salt wasting (SW) form, and simple virilizing (SV) form
To prevent a life-threatening adrenal crisis and help perform appropriate sex assignments for affected female patients, newborn screening (NBS) programs for the classical form of CAH have been introduced in numerous countries [7]
Summary
To prevent a life-threatening adrenal crisis and help perform appropriate sex assignments for affected female patients, newborn screening (NBS) programs for the classical form of CAH have been introduced in numerous countries [7]. To prevent a life-threatening crisis and form help perform appropriate sex assignwhich clinical problems are not obvious during the neonatal period or childhood, generally ments for affected female patients, newborn screening (NBS) programs for the classical developing during adolescence or adulthood [1,2]. 2. Screening System in Japan for patients with CAH; 3, factors that would impact the NBS system, including timeline, The NBS in Japan was introduced individually into the prefectural administration false positive, and LC-MS/MS; and 4, database composition and improvement of the according to a government notification by the Ministry of Health and Welfare in 1977.
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