Normal and Aberrant Growth

Cooke, David W.; DiVall, Sara A.; Radovick, Sally

doi:10.1016/b978-1-4377-0324-5.00024-9

Cited by 19 publications

(29 citation statements)

References 1,513 publications

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“…Growth velocity is mostly enhanced in the first year of therapy. Mean gain in height SD of +1 SD appears to be sustained, even if bone maturation is also accelerated (3,8,22,24 GH treatment seem to be the following ones (10,20,22,26):…”

Section: Endocrine Aspects In Noonan Syndromementioning

confidence: 91%

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Genotype – Phenotype Correlations in Noonan Syndrome

Rusu¹

2014

Acta Endo (Buc)

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Our study aimed to evaluate clinical, endocrine and genetic aspects in three patients with Noonan syndrome and to establish genotype -phenotype correlations. Noonan syndrome is a frequent autosomal dominant disorder, characterized by distinctive facial features, short stature, congenital heart defects, unusual chest shape, broad/ webbed neck, cryptorchidism and developmental delay. GH therapy initiated early adds 1 SD to final adult height. We have identified common features that are very suggestive for the diagnosis, as well as the changing of facial aspect in time. In case 2 we recorded a milder phenotype than expected for KRAS mutations. In case 3 we identified new features (severe scoliosis and ventricular septal defect) as well as more severe clinical features than expected for SOS 1 mutations. We have detected particular patterns of growth in our patients before and after GH therapy. Unlike literature data, our PTPN11 mutation positive child reacted very well to GH, whereas our KRAS mutation positive case started to gain Ht only after 3 years of GH therapy. We have recorded hypertrophic scars either as a new feature of NS, or as a possible adverse event of GH therapy. GH therapy was successful in our patients, without classical adverse events recorded. Somatotropic axis dysfunction is discussed.

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Section: Endocrine Aspects In Noonan Syndromementioning

confidence: 91%

“…Cases from this paper (C1, C2, C3), with some individualized features (see text for details). 25,26). Growth velocity is mostly enhanced in the first year of therapy.…”

Section: Endocrine Aspects In Noonan Syndromementioning

confidence: 97%

Genotype – Phenotype Correlations in Noonan Syndrome

Rusu¹

2014

Acta Endo (Buc)

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“…5 The patient felt that contraceptive pills were more socially acceptable than monohormone estrogen therapy. She was thus continued on combined oral contraceptives for 13 years with annual visits and examinations.…”

Section: Casementioning

confidence: 98%

Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy

Hoefgen

Merritt

2015

Journal of Pediatric and Adolescent Gynecology

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“…The HtSDS was calculated by the formula: HtSDS = (mean height for age -patient's height)/SD. 7 Weight was measured on a beam balance (Tulaman, Hyderabad) while wearing minimal clothing.…”

Section: Methodsmentioning

confidence: 99%

Initial catch-up growth in children with hypothyroidism on thyroxine replacement therapy

Rajitha¹,

Suresh²,

Sunil³

et al. 2015

J Clin Sci Res

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Background: There is a paucity of observational data from India on initial catch up growth in hypothyroid children started on thyroxine replacement therapy. Methods:We retrospectively studied 44 children and adolescents (32 girls) with a diagnosis of primary hypothyroidism i.e., (thyrotropin > 15 µIU/mL and thyroxine < 55ng/mL). All were started on treatment with oral thyroxine. The dose was adjusted to maintain thyrotropin between 0.5-5 µIU/mL. Height was measured at baseline and at each follow-up visit and height standard deviation scores (HtSDS) were calculated. We studied the therapeutic benefit of thyroxine replacement therapy on growth in the initial couple of years of treatment.Results: Dose of thyroxine required to restore euthyroidism was 4.1±2.5 µg/kg body weight. The dose fell from 9.7±2.4 µg/kg body weight in infants to 3.0±1.5 µg/kg body weight in adolescence (p<0.001). Likewise, the dose per unit body surface area also fell consistently from 207 ± 70.3 µg/m 2 in infants to only 89.3±17.9 µg/m 2 in adolescents (p<0.001). The initial HtSDS was 2.0±1.5 and this improved by 0.4 to final value of -1.6±1.3 (p < 0.001) after an average follow up of 14.1±2.5 months. The mean catch-up growth velocity, weighted for the duration of follow-up was 7.7 cm/year. Conclusions:The HtSDS deficit because of hypothyroidism is partially regained in the first few years after treatment. Key words: Catch up growth, Primary hypothyroidism, Thyroxine dose Catch up growth in hypothyroidismRajitha et al

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Normal and Aberrant Growth

Cited by 19 publications

References 1,513 publications

Genotype – Phenotype Correlations in Noonan Syndrome

Genotype – Phenotype Correlations in Noonan Syndrome

Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy

Initial catch-up growth in children with hypothyroidism on thyroxine replacement therapy

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