Hydrocortisone Therapy and Growth Trajectory in Children with Classical Congenital Adrenal Hyperplasia

Bizzarri, Carla; Improda, Nicola; Maggioli, Chiara; Capalbo, Donatella; Roma, Silvia; Porzio, Ottavia; Salerno, Mariacarolina; Cappa, Marco

doi:10.4158/ep171751.or

Cited by 12 publications

(4 citation statements)

References 23 publications

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“…Height has been reported to increase at doses < 20 mg/m 2 /d at the onset of puberty ( 100 ). Negative correlations were reported between adult height and glucocorticoid dosage during early puberty ( 84 , 85 , 86 , 101 ). In contrast, in a meta-analysis of adult height in 21-OHD, no significant correlation was found between adult height SDS adjusted for parental height and the total dosage of glucocorticoid ( 102 ).…”

Section: Initial Treatment For Neonates and Maintenance Therapy For P...mentioning

confidence: 99%

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

Ishii¹,

Kashimada²,

Amano

et al. 2022

Clin Pediatr Endocrinol

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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.

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Section: Initial Treatment For Neonates and Maintenance Therapy For P...mentioning

confidence: 99%

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

Ishii¹,

Kashimada²,

Amano

et al. 2022

Clin Pediatr Endocrinol

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“…In our study, no significant differences in Ht‐SDS or bone age (BA) advance were found according to corticosteroid dose. Both inadequately low, and high steroids, can impair growth, and the lowest effective dose of hydrocortisone should be used to optimize pubertal growth spurt and final height 16 …”

Section: Discussionmentioning

confidence: 99%

Genotype and clinical outcomes in children with congenital adrenal hyperplasia

Yoon

Cheon

2021

Pediatrics International

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Background The study aimed to delineate the genotypic features and endocrine / metabolic profiles in patients with 21‐hydroxylase deficiency. Methods Subjects were diagnosed with 21‐hydroxylase deficiency by direct Sanger sequencing or multiple ligation‐dependent probe amplification analysis and followed up in Pusan National University Children's Hospital from July 2008 to April 2019. The genotype, phenotype, and endocrine and metabolic profiles in children and young adults with congenital adrenal hyperplasia were investigated. Results Of a total of 33 patients, 16 (48.5%) were males. Median age was 7.4 years (range, 0.1–23.8 years). Thirty (90.9%) had salt‐wasting phenotypes. Eleven (33.3%) initially presented with abnormality in a neonatal screening test without other symptoms. Among the 17 girls, seven received genital surgery. Sixty‐five alleles from the 33 patients were evaluated. The distribution of CYP21A2 gene mutations revealed an intron 2 splice site (c.293‐13A>G or c.293‐13C>G) mutation as the most common one (22, 33.8%), followed by c.518T>A (10, 15.4%) and a large deletion / conversion (7, 10.8%), in order. One novel mutation was detected, c.332del(p.G111fs). Among the 27 patients aged >2 years, fifteen (55.6%) were obese / overweight, and ten (37.0%) needed growth hormone therapy due to short stature. Among the seven subjects aged >2 years and having high‐risk genotype, five had impaired fasting glucose, three had precocious puberty, and four used growth hormone. A greater proportion of the high current corticosteroid dose group had impaired fasting glucose than in the low‐dose group (64.3 vs 23.1%, P = 0.031). Conclusions Early monitoring of endocrine and metabolic complications from childhood might benefit patients with congenital adrenal hyperplasia.

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“…While it is well known that poor height prognosis in classical congenital hyperplasia patients could be significantly improved by the early start of appropriate glucocorticoid and mineralocorticoid replacement therapy, the same could not be fully confirmed for NCCAH patients [25]. Most of the studies about this topic in NCCAH, in fact, often showed unclear and discordant results [6-8, 12, 13].…”

Section: Discussion/conclusionmentioning

confidence: 99%

Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia

et al. 2020

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Background: Children with nonclassical congenital adrenal hyperplasia (NCCAH) often present increased growth velocity secondary to elevation of adrenal androgens that accelerates bone maturation and might compromise adult height (AH). Objective: The aim of the study was to analyze prognostic factors affecting growth trajectory (GT) and AH in children with NCCAH. Methods: The study was a retrospective, multicentric study. The study population consisted of 192 children with a confirmed molecular diagnosis of NCCAH, followed by pediatric endocrinology centers from diagnosis up to AH. Clinical records were collected and analyzed. AH (standard deviation score; SDS), pubertal growth (PG) (cm), GT from diagnosis to AH (SDS), and AH adjusted to target height (TH) (AH-TH SDS) were evaluated as outcome indicators using stepwise linear regression models. Results: The stepwise linear regression analysis showed that AH and AH-TH were significantly related to chronological age (CA) (p = 0.008 and 0.016), bone age (BA)/CA ratio (p = 0.004 and 0.001), height (H) (p < 0.001 for both parameters) at NCCAH Wasniewska et al.

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Hydrocortisone Therapy and Growth Trajectory in Children with Classical Congenital Adrenal Hyperplasia

Cited by 12 publications

References 23 publications

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

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

Genotype and clinical outcomes in children with congenital adrenal hyperplasia

Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia

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