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Case Reports
. 2019 Aug 14;45(1):100.
doi: 10.1186/s13052-019-0694-y.

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency

Maria Cristina Maggio  1 , Giovanni Corsello  2
Affiliations
Case Reports

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency

Maria Cristina Maggio et al. Ital J Pediatr. .

Abstract

Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised.We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization analysis using Sex-determining Region Y probe revealed no signal on the derivative Y chromosome.At the admittance, height was 84.5 cm (- 1.24 SDS); SPAN was 79 cm; sitting height: 72.4 cm; weight was 17.5 kg. Bone age was 1.2 years. Multiplex Ligation Probe Amplification showed a heterozygous deletion of the Short Stature Homeobox-containing gene and of the pseudoautosomal region-1. This result correlated with Leri-Weill Syndrome. She started Growth Hormone treatment, with a good response.The case described shows a rare translocation, involving the X chromosome and including SHOX gene and the pseudoautosomal region-1. At our knowledge, this is the first case of a patient with a karyotype 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2) and Short Stature Homeobox-containing gene haploinsufficiency, successfully treated with Growth Hormone.

Keywords: Chromosome translocation; Growth hormone; SHOX haploinsufficiency; Treatment adherence.

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Conflict of interest statement

The authors report no conflicts of interest in this work.

References

    1. Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr. 2011;75(2):81–89. doi: 10.1159/000324105. - DOI - PubMed
    1. Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, et al. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet. 2007;44(5):306–313. doi: 10.1136/jmg.2006.046581. - DOI - PMC - PubMed
    1. Cacciari E, Milani S, Balsamo A, Spada E, Bona G, Cavallo L, et al. Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr) J Endocrinol Investig. 2006;29(7):581–593. doi: 10.1007/BF03344156. - DOI - PubMed
    1. Blum WF, Ross JL, Zimmermann AG, Quigley CA, Child CJ, Kalifa G, et al. GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: results of a multicenter trial. J Clin Endocrinol Metab. 2013;98(8):E1383–E1392. doi: 10.1210/jc.2013-1222. - DOI - PubMed
    1. Iughetti L, Vannelli S, Street ME, Pirazzoli P, Bertelloni S, Radetti G, et al. Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy. Horm Res Paediatr. 2012;78(5–6):279–287. - PubMed

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