Prevalence of growth hormone (GH) deficiency in previously GH‐treated young adults with Prader‐Willi syndrome

Donze, Stephany; Damen, Layla; Velden, Janiëlle A E M van Alfen-van der; Bocca, Gianni; Finken, Martijn J J; Hoorweg-Nijman, Gera; Jira, Petr; Leeuwen, Mariette van; Hokken-Koelega, Anita C S

doi:10.1111/cen.13988

Cited by 19 publications

(15 citation statements)

References 35 publications

(54 reference statements)

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“…Individuals with PWS display signs and symptoms of GH deficiency, like short stature, small for height hands and feet, increased body fat and low muscle strength, and muscle mass [ 3 ]. Although the reported prevalence of GH deficiency in adults with PWS ranges from 0–38% [ 65 , 66 ], these percentages are only a rough estimate as there are no adequate tests to confirm the diagnosis of GH deficiency in patients with PWS [ 65 , 67 , 68 ]. The GHRH-arginine test does not detect GH deficiency of hypothalamic origin, as the underlying GHRH deficiency is reversed due to the administration of GHRH [ 69 ].…”

Section: Discussionmentioning

confidence: 99%

Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome

Pellikaan

Rosenberg

Davidse

et al. 2021

JCM

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Prader-Willi syndrome (PWS) is a complex hypothalamic disorder. Features of PWS include hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. The combination of growth hormone treatment and multidisciplinary care (GHMDc) has greatly improved the health of children with PWS. Little is known about the effects of childhood GHMDc on health outcomes in adulthood. We retrospectively collected clinical data of 109 adults with PWS. Thirty-nine had received GHMDc during childhood and adolescence (GHMDc+ group) and sixty-three had never received growth hormone treatment (GHt) nor multidisciplinary care (GHMDc− group). Our systematic screening revealed fewer undetected health problems in the GHMDc+ group (10%) than in the GHMDc− group (84%). All health problems revealed in the GHMDc+ group had developed between the last visit to the paediatric and the first visit to the adult clinic and/or did not require treatment. Mean BMI and the prevalence of diabetes mellitus type 2 were significantly lower in the GHMDc+ group compared to the GHMDc− group. As all patients who received GHt were treated in a multidisciplinary setting, it is unknown which effects are the result of GHt and which are the result of multidisciplinary care. However, our data clearly show that the combination of both has beneficial effects. Therefore, we recommend continuing GHMDc after patients with PWS have reached adult age.

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Section: Discussionmentioning

confidence: 99%

Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome

Pellikaan

Rosenberg

Davidse

et al. 2021

JCM

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“…More recently, studies have even demonstrated higher vocabulary IQ scores in paediatric PWS patients treated with GH compared with non‐GH groups 10 . In previously treated young adults with PWS, approximately 1 in 7 demonstrated GH insufficiency on GHRH‐arginine testing, but none fulfilled the consensus criteria for adult GHD 11 …”

Section: Introductionmentioning

confidence: 99%

The use of growth hormone therapy in adults with Prader‐Willi syndrome: A systematic review

Frixou

Vlek

Lucas‐Herald

et al. 2020

Clinical Endocrinology

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Objective Despite clear benefits in the management of children with Prader–Willi syndrome (PWS), the role of growth hormone (GH) in adults is unclear. The aim of this study was to conduct a systematic review to evaluate the effects of GH on body composition, bone health and cardiovascular health in adults with PWS. Design A systematic computerized literature search of the PubMed database was conducted by two independent reviewers. Inclusion criteria were individuals over the age of 16 years with a genetic diagnosis of PWS who had received GH therapy, together with assessment of body composition, bone health or cardiovascular health. Results Twenty full‐text papers met the inclusion criteria, encompassing 364 unique patients. No differences in body mass index (BMI) were noted, although 2 studies reported increased BMI after GH cessation. Data demonstrated statistically significant increases in lean body mass and reductions in percentage fat mass. Studies reported inconsistent effects of GH on cholesterol and echocardiography parameters. No studies reported differences in bone mineral density, although one reported improved bone geometry. Minor adverse events including pretibial oedema, headache and transient impaired glucose tolerance were reported in 7 studies. Conclusions These data suggest that GH is safe and well tolerated in adults with PWS, with evidence of improvement in body composition. Further longitudinal studies are still required to investigate the effects of GH on bone and cardiovascular health. Where GH is used in adults with PWS, this should be managed by a specialist multidisciplinary team with regular monitoring initiated.

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“…In a recent Dutch study, mean serum IGF-I in childhood was −1.7 SDS, suggesting that IGF-I was less than −2 SDS in about 40% of cases. Interestingly, GH secretion appears to increase by age in this syndrome: both serum IGF-I and IGFBP-3 normalized in GH-treated young adults, and none of the patients met the criteria for adult GHD [83].…”

Section: Critical Appraisal Of the Diagnostic Value Of Gh Profiles And Of The Validity Of The Concept Of Gh Neurosecretory Dysfunctionmentioning

confidence: 99%

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion

et al. 2021

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The current differential diagnosis for a short child with low insulin-like growth factor I (IGF-I) and a normal growth hormone (GH) peak in a GH stimulation test (GHST), after exclusion of acquired causes, includes the following disorders: (1) a decreased spontaneous GH secretion in contrast to a normal stimulated GH peak (“GH neurosecretory dysfunction,” GHND) and (2) genetic conditions with a normal GH sensitivity (e.g., pathogenic variants of GH1 or GHSR) and (3) GH insensitivity (GHI). We present a critical appraisal of the concept of GHND and the role of 12- or 24-h GH profiles in the selection of children for GH treatment. The mean 24-h GH concentration in healthy children overlaps with that in those with GH deficiency, indicating that the previously proposed cutoff limit (3.0–3.2 μg/L) is too high. The main advantage of performing a GH profile is that it prevents about 20% of false-positive test results of the GHST, while it also detects a low spontaneous GH secretion in children who would be considered GH sufficient based on a stimulation test. However, due to a considerable burden for patients and the health budget, GH profiles are only used in few centres. Regarding genetic causes, there is good evidence of the existence of Kowarski syndrome (due to GH1 variants) but less on the role of GHSR variants. Several genetic causes of (partial) GHI are known (GHR, STAT5B, STAT3, IGF1, IGFALS defects, and Noonan and 3M syndromes), some responding positively to GH therapy. In the final section, we speculate on hypothetical causes.

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Prevalence of growth hormone (GH) deficiency in previously GH‐treated young adults with Prader‐Willi syndrome

Cited by 19 publications

References 35 publications

Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome

Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome

The use of growth hormone therapy in adults with Prader‐Willi syndrome: A systematic review

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion

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