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1.
Front Endocrinol (Lausanne) ; 14: 1270845, 2023.
Article in English | MEDLINE | ID: mdl-37881494

ABSTRACT

Objective: Isolated childhood growth hormone deficiency (GHD) can persist into adulthood, and re-testing at the transition period is needed to determine whether continued growth hormone therapy is indicated. Here, our objective was to identify predictors of permanent GHD. Design: Retrospective single-centre study of patients with childhood-onset GHD who were re-tested after adult height attainment. Methods: Auxological, clinical, laboratory, and MRI data throughout follow-up were collected. Results: We included 101 patients. At GH treatment initiation, age was 8.1 ± 0.4 years, height -2.25 ± 0.8, and BMI -0.27 ± 0.1 SDS. The 29 (28.7%) patients with persistent GHD had lower height SDS (-2.57 ± 0.1 vs. -2.11 ± 0.1, p<0.001) and mean GH peaks (8.4 ± 1.0 vs.13.2 ± 0.5 mIU/L, p<0.001) at GHD diagnosis; at adult height, they had lower IGF1 (232 ± 19.9 vs. 331 ± 9.1 ng/mL, p<0.001) and higher BMI SDS (-0.15 ± 0.27 vs. -0.73 ± 0.13, p<0.005). By multivariate analysis, the best predictive model included height and BMI SDS, both GH peaks, and MRI findings at diagnosis. Patients with height at diagnosis <-3 SDS had a 7.7 (95% IC 1.4-43.1, p=0.02) fold higher risk of persistent GHD after adjustment on BMI SDS. An abnormal pituitary region by MRI was the strongest single predictor (7.2 times, 95% CI 2.7-19.8) and after multivariate analysis adjustment for GH peaks and height SDS at diagnosis, the risk increased to 10.6 (1.8 - 61.3) times. Conclusions: Height <-3 SDS at GHD diagnosis and pituitary MRI abnormalities should lead to a high index of suspicion for persistent GHD.


Subject(s)
Dwarfism, Pituitary , Human Growth Hormone , Hypopituitarism , Adult , Child , Humans , Dwarfism, Pituitary/diagnosis , Dwarfism, Pituitary/drug therapy , Human Growth Hormone/deficiency , Hypopituitarism/diagnosis , Hypopituitarism/drug therapy , Retrospective Studies
2.
J Clin Endocrinol Metab ; 104(6): 2103-2111, 2019 06 01.
Article in English | MEDLINE | ID: mdl-30649493

ABSTRACT

OBJECTIVE: Short stature in children and adolescents may lead to social and emotional stress, with negative effects on quality of life (QoL). GH treatment may improve QoL through height normalization. Our objective here was to evaluate general and height-specific QoL after 1 year of GH treatment. DESIGN: Prospective, single-center, observational cohort study. METHODS: Children ≥ 4 years of age starting GH at our center from 2012 to 2015 to treat short stature were studied. Patients with serious diseases, syndromic short stature, or developmental delay were excluded. At treatment initiation and 1 year later, patients and their parents completed the general PedsQL 4.0 and height-specific Quality of Life in Short Stature Youth (QoLiSSY) questionnaires. Correlations between self-report and parent-report scores and between height gain and QoL improvements were assessed based on Pearson correlation coefficients. RESULTS: Seventy-four children (42 boys, 32 girls), median age (± SD), 10.2 ± 3.0 years (range, 4.1 to 16.6 years), were included. The self-report PedsQL indicated significant improvements in emotional (P = 0.02) and social (P = 0.03) QoL. As assessed by the QoLiSSY, children reported improvement of social QoL (+0.2 SD; P = 0.04), and parents reported improvement of children's physical (+0.1 SD; P < 0.0001), emotional (+0.3 SD; P < 0.0001), and social (+0.3 SD; P < 0.0001) QoL. Height SD score (SDS) gains showed moderate positive correlations with QoLISSY self-report score gains (R = 0.53, R2 = 0.28; P < 0.001) and QoLISSY parent-report gains (R = 0.60, R2 = 0.41; P < 0.00001). CONCLUSIONS: After 1 year of GH treatment, children had significant gains in emotional and social QoL, as assessed by a general self-report questionnaire and height-specific parent-report questionnaire.


Subject(s)
Body Height , Growth Disorders/drug therapy , Human Growth Hormone/therapeutic use , Quality of Life , Adolescent , Child , Child, Preschool , Emotions , Female , Growth Disorders/psychology , Humans , Male , Prospective Studies , Self Report
3.
Am J Med Genet A ; 176(12): 2685-2694, 2018 12.
Article in English | MEDLINE | ID: mdl-30569664

ABSTRACT

We present new and complete growth charts for 2,598 healthy French children and adolescents with Down syndrome (DS) from 0 to 20 years old, obtained with highly reliable statistical methods. This study is retrospective and addresses data collected over a period of 12 years, monocentric and with a satisfactory representation of the population nationwide. Final occipito-frontal circumference (OFC) is at the fifth percentile compared to WHO charts, with a drop between 12 and 18 months. Final height is at the first percentile compared to WHO charts for girls and boys with two periods of reduced growth velocity: before 36 months and around puberty. We observed no pubertal growth peak for girls. For boys, pubertal growth peak showed to happen earlier and to be less significant than in the general population. When compared to a previous French study with people affected with DS, pubertal growth acceleration begins at a later age for girls and boys; girls in our study are taller at age 15 (+5 cm), but there is no difference for boys at this age. Overweight is more frequent compared to the typical French population. Mean body mass index (BMI) rises rapidly above the 75th percentile of typical French children as early as age 4, with an earlier age for precocious adiposity rebound. The second period for rapid increase of BMI is around 14 years old. When compared to a previous French study with DS, we did not observe any BMI increase, at least up to the age of 14.


Subject(s)
Down Syndrome/epidemiology , Growth Charts , Adiposity , Adolescent , Body Height , Body Mass Index , Body Weight , Child , Child, Preschool , Down Syndrome/history , Electronic Health Records , Female , History, 20th Century , History, 21st Century , Humans , Infant , Infant, Newborn , Male , Retrospective Studies , Young Adult
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