Abstract:Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of
21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in
1989, with a focus on patients with severe disease. The “Guidelines for Treatment of
Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass
Screening (1999 revision)” published in 1999 were revised to include 21-OHD patients with
very mild or no clinical symptoms. Accumulation of cases and experience has subse… Show more
“…The survey covered >80% of patients who were theoretically calculated by the reported prevalence of 21-OHD in Japan [10, 11], indicating that this study provided representative data for Japanese children with 21-OHD. Based on the results of the survey, pediatric endocrinologists should acknowledge that adrenal crisis is not rare and still potentially associated with fatal outcome.…”
Background/Aims: We aimed to evaluate the incidence and characteristics of adrenal crisis in Japanese children with 21-hydroxylase deficiency (21-OHD). Methods: We conducted a retrospective nationwide survey for the councilors of the Japanese Society for Pediatric Endocrinology (JSPE) regarding adrenal crisis in children under 7 years with 21-OHD, admitted to hospitals from 2011 through 2016. We defined adrenal crisis as the acute impairment of general health due to glucocorticoid deficiency with at least two of symptoms, signs, or biochemical abnormalities. Results: The councilors of the JSPE in 83 institutions responded to this survey (response rate, 60.1%). Data analyses of 378 patients with 1,101.4 person-years (PYs) revealed that 67 patients (17.7%) experienced at least 1 episode of hospital admission for adrenal crisis at the median age of 2 years. The incidence of adrenal crisis was calculated as 10.9 per 100 PYs (95% confidence interval [CI] 9.6–12.2). Infections were the most common precipitating factors, while no factor was observed in 12.5%. Hypoglycemia occurred concomitantly in 27.4%. One patient died from severe hypoglycemia, resulting in a mortality rate of 0.09 per 100 PYs (95% CI 0.0–0.2). Conclusion: Adrenal crisis is not rare and can be accompanied by disastrous hypoglycemia in children with 21-OHD.
“…The survey covered >80% of patients who were theoretically calculated by the reported prevalence of 21-OHD in Japan [10, 11], indicating that this study provided representative data for Japanese children with 21-OHD. Based on the results of the survey, pediatric endocrinologists should acknowledge that adrenal crisis is not rare and still potentially associated with fatal outcome.…”
Background/Aims: We aimed to evaluate the incidence and characteristics of adrenal crisis in Japanese children with 21-hydroxylase deficiency (21-OHD). Methods: We conducted a retrospective nationwide survey for the councilors of the Japanese Society for Pediatric Endocrinology (JSPE) regarding adrenal crisis in children under 7 years with 21-OHD, admitted to hospitals from 2011 through 2016. We defined adrenal crisis as the acute impairment of general health due to glucocorticoid deficiency with at least two of symptoms, signs, or biochemical abnormalities. Results: The councilors of the JSPE in 83 institutions responded to this survey (response rate, 60.1%). Data analyses of 378 patients with 1,101.4 person-years (PYs) revealed that 67 patients (17.7%) experienced at least 1 episode of hospital admission for adrenal crisis at the median age of 2 years. The incidence of adrenal crisis was calculated as 10.9 per 100 PYs (95% confidence interval [CI] 9.6–12.2). Infections were the most common precipitating factors, while no factor was observed in 12.5%. Hypoglycemia occurred concomitantly in 27.4%. One patient died from severe hypoglycemia, resulting in a mortality rate of 0.09 per 100 PYs (95% CI 0.0–0.2). Conclusion: Adrenal crisis is not rare and can be accompanied by disastrous hypoglycemia in children with 21-OHD.
“…Thereafter, the daily dosage of hydrocortisone was gradually reduced to an average of 40 mg/m2 for the second year of life and 10-25 mg/m2 from the third year of life onwards. The doses of hydrocortisone that we used are closer to the Japanese [9] than to the European or American guidelines [10]. Fig.…”
BackgroundGenital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.MethodsWe followed up girls with 21 hydroxylase deficiency (21- OHD) in genital morphology during childhood and acceptability among patients and parents of such an approach.ResultsPreliminary results from 7 children, aged 1–8 years (median 4.5 years), suggest that it is acceptable among patients and families to defer genital operation in 21-OHD. All patients had a Prader stage III and above. Median clitoral length at birth was 24 mm (20-28 mm) and had diminished to a median of 9 mm (5-15 mm) at their last visit. Height and weight have remained strictly normal in all patients. So far girls and their parents have not expressed significant concerns regarding genital ambiguity.ConclusionsWith this encouraging data at hand, we propose to formally address levels of anxiety, adaptation and quality of life during childhood, with an ultimate goal to assess long term satisfaction and effects on sexuality through deferring genital surgery for adolescence.
“…Congenital adrenal hyperplasia (CAH) is a group of genetically inherited enzymatic defects of biosynthesis of cortisol and accumulating intermediate precursors. The most common form of CAH is 21-hydroxylase deficiency (21-OHD) ( 1 , 2 , 3 , 4 , 5 ), which affects about 1 in 18,000 worldwide. 21-OHD is classified into three forms according to the severity of the disease.…”
Section: Introductionmentioning
confidence: 99%
“…In the SW and simple virilizing (SV) forms, affected female neonates present with virilized external genitalia. The nonclassic (NC) form can manifest with hyperandrogenism later in life ( 3 , 4 , 5 ). The SW form accounts for approximately 70–80% of all cases of 21-OHD ( 1 , 3 , 5 ).…”
Section: Introductionmentioning
confidence: 99%
“…The nonclassic (NC) form can manifest with hyperandrogenism later in life ( 3 , 4 , 5 ). The SW form accounts for approximately 70–80% of all cases of 21-OHD ( 1 , 3 , 5 ). In children with the SW form, a life-threatening salt-wasting crisis occurs in the second or third week of life.…”
Abstract. Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (SV), and nonclassic (NC) forms. The most severe form of SW manifests in the first months of life with life-threatening adrenal insufficiency, leading to death. To prevent death by adrenal insufficiency in neonates with the SW form and wrong gender assignment of 46,XX female patients with SW and SV, neonatal mass screening of 21-OHD is performed in several countries including Japan. However, the positive predictive value (PPV) remains low, especially in preterm infants. To reduce the false positive rate and increase the PPV, liquid chromatography followed by tandem mass spectrometry (LC-MS/MS) as a second-tier test may be useful. In this review, the current knowledge on neonatal mass screening of 21-OHD is summarized.Key words: 21-hydroxylase deficiency, neonatal screening, liquid chromatography followed by tandem mass spectrometry (LC-MS/MS)
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