Growth Pattern and Pubertal Development in Patients with Classic 21-Hydroxylase Deficiency

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SAT 596-621-Pediatric Endocrinology /Steroids and Puberty
Saturday, June 15, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SAT-603
Supawadee Bunraungsak1, Tippayakarn Klomchan1 and Taninee Sahakitrungruang*2
1Chulalongkorn University, 2Chulalongkorn University, Bangkok, Thailand
Background: The goal of treatment in children with congenital adrenal hyperplasia (CAH) is to normalize growth and pubertal development. There are limited studies reporting on growth and pubertal outcome in CAH patients from low-resource settings as in Thailand, where CAH newborn screening is lacking, and standard medications are not widely available.

Objective: The aim of this study was to analyze the longitudinal growth data, and pubertal characteristics in children and adolescents with CAH, compared with population-based references.

Methods: Fifty-eight patients with classic 21-hydroxylase deficiency (21OHD) [49 had salt-wasting (SW)-CAH and 9 patients had simple virilizing (SV)-CAH] were retrospectively assessed for growth and pubertal development until they reached their final height (FH). Details of treatment, and hormonal profiles were recorded.

Results: Mean FH SD scores (SDS) of patients were in the lower range of normal population (SW males -1.88±0.6, SW females -1.88±1.1 and SV males -1.06, SV females -1.56±1.4). Nine of the 19 males, and 6 of the 39 female patients had BMI SDS >2.0. Mean ages of pubertal onset in SW, and SV males were 8.2±2.4 yr, and 7.1±1.9 yr, respectively; while in SW females were 9.7±2.2 yr, and SV 7.0±1.7 yr.  Twelve of the 38 patients had central precocious puberty and required GnRH analog treatment. Total pubertal growth was significantly decreased in SW group, but not in SV group; SW males 15.5±10.6 cm (reference 22.1±3.6 cm), and SW-females 10.6±5.5 cm (reference 18.3±4.0 cm). Glucocorticoid dose was not associated with FH-SDS (n = 19, r = -0.132, P= 0.589). Markedly elevated 17-hydroxyprogesterone and testosterone levels were observed during pubertal period.

Conclusion: Our results demonstrate poor final height outcome in Thai children with classic 21OHD. Obesity, secondary central precocious puberty, and poor hormonal control are common.  These findings necessitate early diagnosis and treatment by establishing newborn screening system in Thailand as well as new treatment regimen and monitoring methods.

Nothing to Disclose: SB, TK, TS

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