Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life

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In contrast to the glucocorticoid maintenance therapy employed in patients with 21 hydroxylase deficiency (21OHD), the initial therapy remains to be optimized. The Japanese Society for Pediatric Endocrinology recommends a hydrocortisone (HC) dose of 25-100 mg/m 2 , which is higher than that employed in Western countries. Herein, we aimed to retrospectively verify the impact of initial HC treatment during infancy and early childhood. Between 2010 and 2018, 15 classical patients with 21OHD were enrolled and divided into the following groups based on initial HC therapy: high dose group (HDG, n = 6), medium dose group (MDG, n = 5), and low dose group (LDG, n = 4). In the HDG and MDG, HC was initiated at 100 mg/m 2 and reduced to maintenance doses over 4-6 mo and 2-3 wk, respectively. In the LDG, HC was initiated with a maintenance dose of 7 mg/d, accompanied by fludrocortisone and oral NaCl. During the second year, 17α-hydroxyprogesterone was sufficiently suppressed in all three groups. At two years of age, no significant differences in anthropometric data were observed. Our retrospective study did not reveal any apparent advantages or disadvantages of high-dose initial HC therapy for 21OHD, and a lower dose would be preferable for the initial 21OHD treatment.

Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 79%

Section: Introductionmentioning

confidence: 99%

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Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency

Saito

Takasawa

Gau

et al. 2021

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“…In contrast, in studies using initial treatment with low-dose HC (9-15 mg/m 2 /d) [8] and high-dose HC in accordance with the Japanese treatment guidelines (88,89), the height SDS at 1 year of age corresponded to -1 SD. There was also no significant difference in height SDS at 1, 2, and 3 years of age between groups initially treated with > 150 and 100 mg/m 2 /d of HC (90). Therefore, the relationship between decreased height SDS early after birth and the dosage of glucocorticoids in the initial treatment is uncertain, and there is no clear evidence that initial treatment with high-dose HC worsens the prognosis for height.…”

Section: -2 Glucocorticoids: Initial Treatment In Neonates and Infantsmentioning

confidence: 93%

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Ishii¹,

Kashimada²,

Amano

et al. 2022

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. Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of CAY21A2 and is prevalent between 1 in 18,000 and 20,000 in Japan. The clinical guidelines for 21-hydroxylase deficiency in Japan have been revised twice since a diagnostic handbook in Japan was published in 1989. On behalf of the Japanese Society for Pediatric Endocrinology, the Japanese Society for Mass Screening, the Japanese Society for Urology, and the Japan Endocrine Society, the working committee updated the guidelines for the diagnosis and treatment of 21-hydroxylase deficiency published in 2014, based on recent evidence and knowledge related to this disorder. The recommendations in the updated guidelines can be applied in clinical practice considering the risks and benefits to each patient.

“…However, in studies using initial treatment with low-dose HC (9–15 mg/m 2 /d) ( 84 ) and a high dose in accordance with the Japanese treatment guidelines ( 90 , 91 ), the height at 1 yr old corresponded to –1 SD. There was also no significant difference in height SDS at 1, 2 and 3 yr old between groups initially treated with > 150 and 100 mg/m 2 /d HC ( 92 ). Therefore, the relationship of decreased height SDS early after birth with the dose of glucocorticoids in initial treatment is uncertain, and there is no clear evidence that initial treatment at a high dose worsens the prognosis for height.…”

Section: Initial Treatment In the Neonatal Stage And Maintenance Tmentioning

confidence: 94%

Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)

Ishii¹,

Anzo

Adachi

et al. 2015

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 subsequently improved diagnosis and treatment of the disease. Based on these findings, the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology further revised the guidelines for diagnosis and treatment. Target disease/conditions: 21-hydroxylase deficiency. Users of the guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, referring pediatric practitioners, general physicians; and patients.