Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening

Contains fulltext : 71281.pdf (publisher's version ) (Closed access)CONTEXT: With advances in the treatment of congenital hypothyroidism (CH), the neuropsychological functioning of CH patients is considerably improved. Although much is written about cognitive and motor development, little is known about emotional and social consequences for patients growing up with CH, diagnosed by neonatal screening. OBJECTIVES: The objectives of the study were to: 1) compare health-related quality of life (HRQoL), developmental milestones also called course of life (CoL), sociodemographical outcomes, and self-esteem of CH patients with the general population; and 2) explore whether severity of CH was related to these outcomes. DESIGN/SETTING/PATIENTS: A total of 69 young adults with CH, born in The Netherlands in 1981-1982, completed the "TNO-AZL Questionnaire for Adult's Health related Quality of Life" questionnaire, the CoL survey (developmental milestones and sociodemographical outcomes), and a self-esteem questionnaire. MAIN OUTCOME MEASURES: HRQoL, CoL, social demographical outcomes, and self-esteem in young adults with CH were determined. RESULTS: CH patients are more often at risk for HRQoL impairment and reported lower HRQoL on several domains (cognitive functioning, P < 0.0001; sleeping, P < 0.004; pain, P < 0.0001; daily activities, P < 0.004; vitality, P < 0.0001; aggressiveness, P < 0.0001; and depressive moods, P < 0.0001) compared with healthy adults. Patients reported a lower self-esteem (P < 0.005) and had a delayed CoL on the domain of social development (P < 0.016). There were no significant within-group differences between the severity groups for HRQoL, CoL, and self-esteem. CONCLUSIONS: Negative consequences in terms of HRQoL, development, and self-esteem are prevalent in young adults with CH. Health care physicians should be attentive to these consequences and provide additional support (emotional and educational guidance) if necessary

Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening

Contains fulltext : 108082.pdf (publisher's version ) (Open Access)ABSTRACT: BACKGROUND: Much is written about cognitive and motor development; less is known about social and emotional consequences of growing up with congenital hypothyroidism (CH).The objectives of the study were: (1) to compare health related quality of life (HRQoL) and self-worth of 10 year old patients with CH with the general population; (2) to explore associations of disease factors, IQ and motor skills with the outcomes. METHODS: Children with CH and their parents completed several questionnaires. Patients were classified to 'severe CH, n = 41' or 'moderate/mild CH, n = 41' based on pre-treatment FT4 concentration.Differences between CH and the general population were tested by analysis of covariance and one sample t-tests (mean scale scores HRQoL and self-worth), chi-square tests and binomial tests (% at risk of impaired HRQoL and self-worth). Linear regression analyses corrected for gender were conducted to explore associations of the outcomes with disease factors, IQ and motor skills. RESULTS: Patients with CH reported lower mean HRQoL on motor, cognitive and social functioning, and on autonomy and positive emotions (p < 0.0001). Patients were also more often at risk for impaired HRQoL and self-worth. No differences were found between the severity groups. Lower IQ was only significant associated with worse cognitive HRQoL. Initial FT4 plasma, age at onset of therapy, initial T4 dose and motor skills were not significantly associated with HRQoL and self-worth. CONCLUSIONS: Negative consequences in terms of HRQoL and self-worth are prevalent in children with CH, independent of disease factors, IQ and motor skills. Physicians should to be attentive to these consequences and provide attention and supportive care

Effects of pre- and postnatal exposure to chlorinated dioxins and furans on human neonatal thyroid hormone concentrations.

Animal studies have shown that dioxins influence plasma thyroid hormone concentrations. To investigate the effect of chlorinated dioxins and furans on thyroid hormone concentrations in humans, we studied 38 healthy breast-fed infants. The study population was divided into two groups according to the dioxin concentrations in milk fat of their mothers. Blood samples were taken at birth and at the ages of 1 and 11 weeks. At birth a tendency to higher total thyroxine (tT4) concentrations was found in the high exposure group. At the ages of 1 and 11 weeks the increase of mean tT4 concentrations and tT4/thyroxine-binding globulin ratios in the high exposure group reached significance as compared to the low exposure group. At birth and 1 week after birth, mean thyrotropin (TSH) concentrations were similar in both groups, but at the age of 11 weeks the mean TSH concentrations were significantly higher in the high exposure group. We postulate that the observed plasma tT4 elevation in infants exposed to dioxins before and after birth is the result of an effect on the thyroid hormone regulatory system

Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening

Contains fulltext : 35756.pdf (publisher's version ) (Open Access)CONTEXT: Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence, it is still unclear whether the frequently reported cognitive and motor deficits observed during childhood persist in adulthood. OBJECTIVE: The objective of this study was to examine cognitive and motor functioning in young adults with congenital hypothyroidism, born in the first 2 yr after the introduction of the Dutch neonatal screening program. DESIGN/SETTING/PATIENTS: Seventy patients were tested (mean age, 21.5 yr); 49 of them were previously tested at 9.5 yr. The median age at the start of treatment was 28 d (range, 4-293 d). Congenital hypothyroidism was classified as severe, moderate, or mild, according to pretreatment T(4) concentrations. MAIN OUTCOME MEASUREMENT: The main outcome measurement was the influence of the severity of congenital hypothyroidism and age at which T(4) supplementation was started on cognitive and motor outcome. RESULTS: Patients, particularly those with severe congenital hypothyroidism, had significantly higher (i.e. worse) motor scores (total score, 7.8; ball skills, 2.0; balance, 4.1) compared with controls (total score, 3.2; ball skills, 0.7; balance, 1.1), and lower full-scale (95.8), verbal (96.4), and performance (95.6) intelligence quotient (IQ) scores than the normal population. No significant change in IQ from childhood to adulthood was found, and for the majority of patients, motor score classification remained the same. The severity of congenital hypothyroidism, but not the starting day of treatment, was correlated with IQ and motor scores. CONCLUSIONS: It is concluded that the severity of congenital hypothyroidism, but not the timing of treatment initiation, is an important factor determining long-term cognitive and motor outcome. Clearly, detrimental effects on developmental outcome in patients with congenital hypothyroidism persist over time

Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens

Although GH treatment for short stature in Turner syndrome is an accepted treatment in many countries, which GH dosage to use and which age to start puberty induction are issues of debate. This study shows final height (FH) in 60 girls with Turner syndrome treated in a randomized dose-response trial, combining GH treatment with low dose estrogens at a relatively young age. Girls were randomly assigned to group A (4 IU/m(2).d; approximately 0.045 mg/kg/d), group B (first year, 4 IU/m(2).d; thereafter 6 IU/m(2).d), or group C (first year, 4 IU/m(2).d; second year, 6 IU/m(2).d; thereafter, 8 IU/m(2).d). After a minimum of 4 yr of GH treatment, at a mean age of 12.7 +/- 0.7 yr, low dose micronized 17beta-estradiol was given orally. After a mean duration of GH treatment of 8.6 +/- 1.9 yr, FH was reached at a mean age of 15.8 +/- 0.9 yr. FH, expressed in centimeters or SD score, was 157.6 +/- 6.5 or -1.6 +/- 1.0 in group A, 162.9 +/- 6.1 or -0.7 +/- 1.0 in group B, and 163.6 +/- 6.0 or -0.6 +/- 1.0 in group C. The difference in FH in centimeters, corrected for height SD score and age at start of treatment, was significant between groups A and B [regression coefficient, 4.1; 95% confidence interval (CI), 1.4, 6.9; P < 0.01], and groups A and C (coefficient, 5.0; 95% CI, 2.3, 7.7; P < 0.001), but not between groups B and C (coefficient, 0.9; 95% CI, -1.8, 3.6). Fifty of the 60 girls (83%) had reached a normal FH (FH SD score, more than -2). After starting estrogen treatment, the decrease in height velocity (HV) changed significantly to a stable HV, without affecting bone maturation (change in bone age/change in chronological age). The following variables contributed significantly to predicting FH SD score: GH dose, height SD score (ref. normal girls), chronological age at start of treatment, and HV in the first year of GH treatment. GH treatment was well tolerated. In conclusion, GH treatment leads to a normalization of FH in most girls, even when puberty is induced at a normal pubertal age. The optimal GH dosage depends on height and age at the start of treatment and first year HV