Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment

Meena, H. S.; Jana, Manisha; Singh, Vishwajeet; Kabra, Madhulika; Jain, Vandana

doi:10.1007/s12098-018-02848-6

Cited by 9 publications

(6 citation statements)

References 28 publications

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“…The prevalence of TART has been reported to increase after 10 years of age and to be 20%–30% under 18 years of age ( 136 , 137 , 138 ). Regular screening TART by testicular ultrasonograms should be considered every 1–2 years in children at and older than the age of 10 years ( 11 ).…”

Section: Monitoring For Pediatric Patients With Classic Formmentioning

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: Monitoring For Pediatric Patients With Classic Formmentioning

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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“…Therefore, irregular menstruation rarely persists in this condition. On the other hand, the prevalence of TART reportedly increases to 20-30% from ages 10 to 18 years (31)(32)(33). Regular testicular ultrasonogram screening for TART is recommended every year to two years in male patients aged 10 years or older (3,4).…”

Section: Goals Of 21-ohd Treatment In Childhoodmentioning

confidence: 99%

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency

Itonaga

Hasegawa²

2023

Front. Endocrinol.

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21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period. In addition, recent advances in genetic testing have facilitated diagnosing 21-OHD, particularly in patients with equivocal clinical information. On the other hand, many challenges related to treatment remain. The goals of glucocorticoid therapy for childhood 21-OHD are to maintain growth and maturation as in healthy children by compensating for cortisol deficiency and suppressing excess adrenal androgen production. It is not easy to calibrate the glucocorticoid dosage accurately for patients with 21-OHD. Auxological data, such as height, body weight, and bone age, are considered the gold standard for monitoring of 21-OHD, particularly in prepuberty. However, these data require months to a year to evaluate. Theoretically, biochemical monitoring using steroid metabolites allows a much shorter monitoring period (hours to days). However, there are many unsolved problems in the clinical setting. For example, many steroid metabolites are affected by the circadian rhythm and timing of medication. There is still a paucity of evidence for the utility of biochemical monitoring. In the present review, we have attempted to clarify the knowns and unknowns about treatment parameters in 21-OHD during childhood.

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“…Among an Indian cohort of81 children (32 boys, 49 girls) with congenital adrenal hyperplasia due to 21 hydroxylase deficiency, two-thirds (57) had salt-wasting and the remaining had simple virilizing type. Twenty-five (31%) of these children had short stature and 45 (55.6%) had growth velocity below the reference range [ 29 ]. CAH is not a target disorder for NBS in Great Britain.…”

Section: Disease Burden In India and Need Of Nbsmentioning

confidence: 99%

CAH Newborn Screening in India: Challenges and Opportunities

Dabas

Bothra

Kapoor

2020

IJNS

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Congenital adrenal hyperplasia (CAH) is a common treatable disorder which is associated with life-threatening adrenal crisis, sexual ambiguity, and/or abnormal growth if undiagnosed. Newborn screening is a cost-effective tool to detect affected babies early after birth to optimize their treatment and follow-up. Newborn screening however is in its nascent stage in India where it is not yet introduced universally for all babies. The following review briefly highlights the challenges (e.g., lack of universal screening, healthcare resources) and opportunities (e.g., reduction in morbidity and early correct gender assignment in females) associated with newborn screening for CAH in a large Indian birth cohort.

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Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment

Cited by 9 publications

References 28 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)

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency

CAH Newborn Screening in India: Challenges and Opportunities

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