Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency

Austin, Devon E.; Gunn, Alistair J.; Jefferies, Craig

doi:10.1093/omcr/omv008

Cited by 4 publications

(7 citation statements)

References 10 publications

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“…Like others ( 9 ), we found that GV approximated mean population GV when she was treated with GH from 3 years 8 months till 8 years 8 months old ( Fig. 2 ).…”

Section: Discussionsupporting

confidence: 87%

“…Among Asians, growth of 34 WHS Japanese children 0–17 years were collated and plotted against local norms ( 7 ). Both data sets, as well as data from other case reports ( 8 , 9 ), describe marked growth retardation among children with WHS. However, information on pubertal growth and final height (FH) among WHS children was lacking.…”

Section: Introductionmentioning

confidence: 91%

“…However, information on pubertal growth and final height (FH) among WHS children was lacking. Growth hormone (GH) therapy was used in two GH-sufficient children with WHS, allowing pre-puberty catch up growth ( 9 ); however, pubertal growth and FH information was unavailable.…”

Section: Introductionmentioning

confidence: 99%

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Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome

Siew

Yap

2018

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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SummaryGrowth anomaly is a prominent feature in Wolf-Hirschhorn syndrome (WHS), a rare congenital disorder caused by variable deletion of chromosome 4p. While growth charts have been developed for WHS patients 0–4 years of age and growth data available for Japanese WHS patients 0–17 years, information on pubertal growth and final height among WHS children remain lacking. Growth hormone (GH) therapy has been reported in two GH-sufficient children with WHS, allowing for pre-puberty catch up growth; however, pubertal growth and final height information was also unavailable. We describe the complete growth journey of a GH-sufficient girl with WHS from birth until final height (FH), in relation to her mid parental height (MPH) and target range (TR). Her growth trajectory and pubertal changes during childhood, when she was treated with growth hormone (GH) from 3 years 8 months old till 6 months post-menarche at age 11 years was fully detailed.Learning points:Pubertal growth characteristics and FH information in WHS is lacking.While pre-pubertal growth may be improved by GH, GH therapy may not translate to improvement in FH in WHS patients.Longitudinal growth, puberty and FH data of more WHS patients may improve the understanding of growth in its various phases (infancy/childhood/puberty).

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“…Like others ( 9 ), we found that GV approximated mean population GV when she was treated with GH from 3 years 8 months till 8 years 8 months old ( Fig. 2 ).…”

Section: Discussionsupporting

confidence: 87%

Section: Introductionmentioning

confidence: 91%

See 1 more Smart Citation

Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome

Siew

Yap

2018

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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“…Growth hormone deficiency (GHD) is a type of growth disorder which is caused by growth hormone (GH) deficiency or inadequate secretion of GH due to hypothalamus or anterior pituitary dysfunction ( 1 , 2 ). It is a common disorder of the endocrine system in children.…”

Section: Introductionmentioning

confidence: 99%

An examination of the effects of different doses of recombinant human growth hormone on children with growth hormone deficiency

Xue

Gao

Wang

et al. 2016

Experimental and Therapeutic Medicine

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The aim of the present study was to examine the effects of different doses of recombinant human growth hormone (rhGH) on children with growth hormone deficiency (GHD) and on thyroid and glucose metabolism to identify more reasonable therapeutic doses of growth hormone (GH) for the treatment of this condition. In total, 60 prepubertal patients with GHD were randomly divided into the high-dose and low-dose groups (n=30 per group). The groups were treated with 0.1 or 0.05 U/kg for 6 months, respectively. The follow-up study focused on changes to the serum levels of insulin-like growth factor-1 (IGF-1), insulin-like growth factor binding protein (IGFBP)-3, blood glucose, thyroid hormone [triiodothyronine (T3) and its prohormone, thyroxine (T4), and thyroid stimulating hormone (TSH)] and the analysis of variance of the repeated data. Changes in the height, body weight and bone age of the high-dose group were greater than those of the low-dose group. After 6 months of treatment, the difference in height between the two groups was statistically significant (P<0.05). Glucose metabolism in the two groups was consistent, but there was a statistically significant difference in the fasting blood glucose (FBG) levels of the two groups after 6 months of treatment (P<0.05). Prior to treatment, the T3, T4 and TSH values (the thyroid function tests) in the two groups, especially for the value of T3 in high-dose group were varied. However, 6 months after treatment, statistically significant differences between the two groups (P<0.05) were identified. In conclusion, 0.1 U/kg of GH is beneficial to children with GHD in attaining a satisfactory height, but it leads to insulin resistance. Thus, glucose metabolism and thyroid function should be monitored on a regular basis in a clinical setting.

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“…Skeletal malformations have been reported in both the axial and appendicular skeleton. Delayed bone age has been widely recognized as a common feature of WHS (Austin, Gunn, & Jefferies, 2015; Gonzalez et al, 1981; Opitz, 1995), although there has been no publications investigating bone fragility. Delayed and secondary centers of ossification and pseudoepiphyses have been shown in hand radiographs (Beluffi & Savasta, 2010; Opitz, 1995).…”

Section: Discussionmentioning

confidence: 99%

Hip displacement in Wolf–Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies

Buddhdev

Sabir

Kokkinakis

et al. 2020

American J of Med Genetics Pt A

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Wolf-Hirschhorn syndrome is a rare genetic disease caused by a chromosomal deletion of the distal short arm of Chromosome 4. It is associated with multisystem abnormalities, including delayed growth, characteristic facial features, epilepsy, and skeletal abnormalities. We report three patients who developed hip displacement, and describe the occurrence of delayed and nonunion in patients who underwent corrective proximal femoral osteotomy for hip displacement. We also performed a literature review identifying common musculoskeletal presentations associated with the condition. Patients with Wolf-Hirschhorn Syndrome are at risk of hip displacement (subluxation), and we would advocate annual hip surveillance in this patient group.

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Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency

Cited by 4 publications

References 10 publications

Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome

Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome

An examination of the effects of different doses of recombinant human growth hormone on children with growth hormone deficiency

Hip displacement in Wolf–Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies

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