Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Brightman, Diana S.; Lokulo-Sodipe, Oluwakemi; Searle, Beverly A; Mackay, Deborah J G; Davies, Justin H; Temple, I. Karen; Dauber, Andrew

doi:10.1159/000496700

Cited by 10 publications

(4 citation statements)

References 22 publications

(38 reference statements)

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“…Also, in our prepubertal group, height SDS increased significantly over the course of 1 year of GH treatment. A previous study in seven GH-treated patients with TS14 showed a similar improvement of height SDS [13]. However, that group had a lower starting median height SDS and a lower median age at initiation of GH treatment, compared to our group.…”

Section: Discussionsupporting

confidence: 65%

“…Not only an early pubertal growth spurt but also treatment with GnRHa can influence height, weight, and body composition. One retrospective study in 7 GH-treated patients with TS14 showed an increased growth after 1 year of GH treatment [13]. Another paper described the effects of GH treatment in 2 patients (aged 6.9 and 9.3 years) with TS14 and found that both height SDS and body composition improved during 2 years of treatment [14].…”

Section: Introductionmentioning

confidence: 99%

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The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome

et al. 2023

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Introduction: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32.2 or an isolated methylation defect. Most patients with TS14 develop precocious puberty. Some patients with TS14 are treated with growth hormone (GH). However, evidence for the effectiveness of GH-treatment in patients with TS14 is limited. Methods: This study describes the effect of GH-treatment in 13 children and provides a subgroup analysis of 5 prepubertal children with TS14. We studied height, weight, body composition by Dual-Energy X-ray Absorptiometry (DXA), resting energy expenditure (REE) and laboratory parameters during 5 years of GH-treatment. Results: In the entire group mean (95% CI) height SDS increased significantly during 5 years of GH-treatment from -1.78 (-2.52; -1.04) to 0.11 (-0.66; 0.87). Fat mass percentage (FM%) SDS decreased significantly during the first year of GH, and lean body mass (LBM) SDS and LBM index increased significantly during 5 years of treatment. IGF-1 and IGF-BP3 levels rose rapidly during GH-treatment and the IGF-1/IGF-BP3 molar ratio remained relatively low. Thyroid hormone levels, fasting serum glucose and insulin levels remained normal. In the prepubertal group, median (IQR) height SDS, LBM SDS and LBM index also increased. REE was normal at start and did not change during one year of treatment. Five patients reached adult height and their median (IQR) height SDS was 0.67 (-1.83; -0.01). Conclusion: GH-treatment in patients with TS14 normalizes height SDS and improves body composition. There were no adverse effects or safety concerns during GH-treatment.

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Section: Discussionsupporting

confidence: 65%

Section: Introductionmentioning

confidence: 99%

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome

et al. 2023

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“…In the current study, four patients were receiving GH treatment at the time of the study, and two had received GH until reaching adult height. As GH treatment has been proven to improve growth [ 35 ], this could possibly explain that an average height SDS was found at the time of examination. Several patients in our study had precocious puberty and had gone through their pubertal growth spurt at a young age and most had been treated with puberty-inhibiting GnRH (Gonadotropin Releasing Hormone) analogues.…”

Section: Discussionmentioning

confidence: 99%

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Juriaans

Kerkhof

Mahabier

et al. 2022

JCM

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Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health. TS14 is often characterized as either Prader–Willi-like, Silver–Russell-like or as a Silver–Russell spectrum disorder. Methods: This study describes 15 patients with TS14 who visited the Dutch Reference Center for Prader–Willi-like from December 2018 to January 2022. Results: Eight patients had UPD(14)mat and seven a methylation defect. The most common symptoms were intra-uterine growth retardation (IUGR) (100%), hypotonia (100%), precocious puberty (89%), small for gestational age (SGA) birth (67%), tube feeding after birth (53%) and psycho-behavioral problems (53%). Median (interquartile range (IQR)) IQ was 91.5 (84.25; 100.0), whilst many patients were enrolled in special education (54%). The median (IQR) fat mass % (FM%) SDS was 2.53 (2.26; 2.90) and lean body mass (LBM) SDS −2.03 (−3.22; −1.28). There were no significant differences in clinical characteristics between patients with a UPD(14)mat and a methylation defect. Conclusions: Our patients share a distinct phenotype consisting of IUGR, SGA birth, precocious puberty, hypotonia, tube feeding after birth, psycho-behavioral problems and abnormal body composition with a high FM% and low LBM. Whilst similarities with Prader–Willi syndrome (PWS) and Silver–Russell syndrome (SRS) exist, TS14 is a discernible syndrome, deserving a tailored clinical approach. Testing for TS14 should be considered in patients with a PWS or SRS phenotype in infancy if PWS/SRS testing is negative.

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“…While there is a lot of literature supporting GH treatment in PWS, there is very little research done in children with PWL. In a small group of patients with Temple syndrome, GH treatment was shown to improve growth (94). In a retrospective study in 26 patients with SYS, of which 14 had been treated with GH, it was shown that GH increased body height and decreased body mass index in the first months of treatment (95).…”

Section: Potential Treatment Optionsmentioning

confidence: 99%

The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature

2021

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Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients with characteristics similar to PWS, but without a typical genetic aberration of the 15q11-q13 region, have been described. These patients are often labelled as Prader-Willi-like (PWL). PWL is an as-yet poorly defined syndrome, potentially affecting a significant number of children and adults. In the current clinical practice, patients labelled as PWL are mostly left without treatment options. Considering the similarities with PWS, children with PWL might benefit from the same care and treatment as children with PWS. This review gives more insight into the pheno- and genotype of PWL and includes 86 papers, containing 368 cases of patients with a PWL phenotype. We describe mutations and aberrations for consideration when suspicion of PWS remains after negative testing. The most common genetic diagnoses were Temple syndrome (formerly known as maternal uniparental disomy 14), Schaaf-Yang syndrome (truncating mutation in the MAGEL2 gene), 1p36 deletion, 2p deletion, 6q deletion, 6q duplication, 15q deletion,15q duplication, 19p deletion, fragile X syndrome and Xq duplication. We found that the most prevalent symptoms in the entire group were developmental delay/intellectual disability (76%), speech problems (64%), overweight/obesity (57%), hypotonia (56%) and psycho-behavioral problems (53%).In addition, we propose a diagnostic approach to patients with a PWL phenotype for (pediatric) endocrinologists. PWL comprises a complex and diverse group of patients, which calls for multidisciplinary care with an individualized approach.

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Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Cited by 10 publications

References 22 publications

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature

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