Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius

Souček, Ondřej; Zapletalová, Jiřina; Zemková, D.; Šnajderová, Marta; Novotná, Dana; Hirschfeldova, Katerina; Plášilová, Ivana; Koloušková, Stanislava; Roček, Miloslav; Hlávka, Zdeněk; Lebl, Jan; Šumnı́k, Zdenĕk

doi:10.1210/jc.2013-1113

Cited by 34 publications

(22 citation statements)

References 35 publications

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“…SHOX-D has been demonstrated in a number of conditions including Léri-Weill syndrome, Langer mesomelic dysplasia, TS, and in children with ISS3,43,44). Interestingly, prepubertal girls with TS and children with isolated SHOX-D show similar bone geometry at the radius4). In a two-year randomized trial, GH treatment (0.05 mg/kg daily) improved growth in patients with SHOX-D45).…”

Section: Shox Deficiencymentioning

confidence: 99%

“…Recent findings indicate that haploinsufficiency of the SHOX gene located in the pseudoautosomal region of the sex chromosomes as one of the leading causes3). In this regard it has been shown that bone alteration of the hand and wrist are similar between girls with TS and patients with SHOX haploinsufficiency4). The final height in untreated girls with TS is approximately 20 cm below that of normal female subjects2).…”

Section: Turner Syndromementioning

confidence: 99%

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Growth hormone treatment in non-growth hormone-deficient children

Loche

Carta

Ibba

et al. 2014

Ann Pediatr Endocrinol Metab

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Until 1985 growth hormone (GH) was obtained from pituitary extracts, and was available in limited amounts only to treat severe growth hormone deficiency (GHD). With the availability of unlimited quantities of GH obtained from recombinant DNA technology, researchers started to explore new modalities to treat GHD children, as well as to treat a number of other non-GHD conditions. Although with some differences between different countries, GH treatment is indicated in children with Turner syndrome, chronic renal insufficiency, Prader-Willi syndrome, deletions/mutations of the SHOX gene, as well as in short children born small for gestational age and with idiopathic short stature. Available data from controlled trials indicate that GH treatment increases adult height in patients with Turner syndrome, in patients with chronic renal insufficiency, and in short children born small for gestational age. Patients with SHOX deficiency seem to respond to treatment similarly to Turner syndrome. GH treatment in children with idiopathic short stature produces a modest mean increase in adult height but the response in the individual patient is unpredictable. Uncontrolled studies indicate that GH treatment may be beneficial also in children with Noonan syndrome. In patients with Prader-Willi syndrome GH treatment normalizes growth and improves body composition and cognitive function. In any indication the response to GH seems correlated to the dose and the duration of treatment. GH treatment is generally safe with no major adverse effects being recorded in any condition.

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Section: Shox Deficiencymentioning

confidence: 99%

Section: Turner Syndromementioning

confidence: 99%

Growth hormone treatment in non-growth hormone-deficient children

Loche

Carta

Ibba

et al. 2014

Ann Pediatr Endocrinol Metab

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“…A relatively low frequency of LWD in Turner patients despite SHOX deficiency is consistent with attenuated estrogen production in these individuals. Soucek et al [2013] investigated bone mineral density and bone geometry in prepubertal patients with SHOX haploinsufficiency. They found a significantly increased total bone area, decreased relative cortical bone area, and a thin cortex.…”

Section: Clinical Manifestations Of Patients With Shox Haploinsufficimentioning

confidence: 99%

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

2016

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SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP, Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients.

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“…investigated bone mineral density and bone geometry in 10 prepubertal patients with SHOX deficiency and 22 patients with Turner syndrome (26). They found that patients of both groups had a thin bone cortex and an enlarged total bone area at the diaphysis of the radius compared with control individuals.…”

Section: Changes In Bone Geometry Andbone Mineral Densitymentioning

confidence: 99%

“…Furthermore, a longitudinal study of a female patient with SHOX deficiency and normal ovarian function showed age-appropriate skeletal maturation before puberty and rapidly advanced bone age during puberty (36). On the other hand, since Soucek et al revealed a significant difference in bone geometry between prepubertal patients with the 46,XX karyotype and prepubertal Turner females, it is likely that some factors other than estrogens may also underlie relatively mild skeletal features in Turner females (26). Soucek et al suggested karyotype mosaicism as one of the possible candidates for such factors (26).…”

Section: Phenotypic Determinantsmentioning

confidence: 99%

Skeletal Deformity Associated with <i>SHOX</i> Deficiency

Seki

Jinno

Suzuki

et al. 2014

Clin Pediatr Endocrinol

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Abstract.SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Recent studies have suggested that perturbed programmed cell death of hypertrophic chondrocytes may underlie the skeletal changes related to SHOX deficiency. Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity. Blood estrogen levels and mutation types have been proposed as phenotypic determinants of SHOX deficiency, although other unknown factors may also affect clinical severity of this entity.

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Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius

Cited by 34 publications

References 35 publications

Growth hormone treatment in non-growth hormone-deficient children

Growth hormone treatment in non-growth hormone-deficient children

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

Skeletal Deformity Associated with <i>SHOX</i> Deficiency

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