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

• Published in: Italian journal of pediatrics 2019-08, Vol.45 (1), p.100-3, Article 100
• Main Authors: Maggio, Maria Cristina, Corsello, Giovanni
• Format: Article
• Language: English
• Subjects: Child, Preschool; Chromosome translocation; Comparative Genomic Hybridization; Female; Growth Disorders - drug therapy; Growth Disorders - genetics; Growth hormone; Haploinsufficiency - genetics; Human Growth Hormone - therapeutic use; Humans; In Situ Hybridization, Fluorescence; Italy; Karyotyping; Letter to the Editor; Short Stature Homeobox Protein - genetics; SHOX haploinsufficiency; Treatment adherence
• ISSN: 1824-7288; 1824-7288
• DOI: 10.1186/s13052-019-0694-y

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.