Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil

Abstract

ObjectivesAdequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients.MethodsClinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls).ResultsMedian chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 μg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04).ConclusionsIn this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism

“…21 Since the beginning of the NS-PR in the early 1990s, progressive logistics improvement over the decades and guidance campaigns for health services and professionals have allowed achievements of high-standard NS quality indicators from 2005 onwards. 5 The NS-PR also provides systematic psychometric evaluation, performed individually and by the same psychologist since the beginning of the program.…”

“…Early and adequate levothyroxine ( l -T4) replacement provides normal growth, puberty, neurodevelopment, and schooling in the vast majority of children with congenital hypothyroidism (CH) detected by neonatal screening (NS). 1 , 2 , 3 , 4 , 5 Although most patients achieve normal intelligence quotient (IQ), subtle cognitive and motor deficits may occur, suggesting that maternal thyroid hormones may not be sufficient to ensure normal fetal brain development, especially in cases of severe hypothyroidism. 6 , 7 Thyroxine (T4dx) or free thyroxine (fT4dx) levels at diagnosis, age at the start of treatment, l -T4 dose, and adherence to treatment significantly correlate to neurodevelopmental outcomes, 8 although other factors are influential, such as familial educational level and socioeconomic status (SES).…”

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Argentina-The progression of genetics and NBS in Argentina has recently been reviewed [1132][1133][1134] [1143,1145], HGB [1146][1147][1148], and CF [1149][1150][1151]. Outcome studies have targeted patients with CH [1152][1153][1154], PKU [1155], GAL [1156], MSUD [1157], and BIO [1158,1159]. The cost effectiveness of NBS for CAH has been reviewed along with inequities in access to NBS itself [1160,1161].…”