Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5'-end of the SHOX gene through the FANCD gene at Xp22.2.

[1]  C. Alves,et al.  The role of the SHOX gene in the pathophysiology of Turner syndrome. , 2011, Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion.

[2]  B. Mendonca,et al.  Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage. , 2008, Arquivos brasileiros de endocrinologia e metabologia.

[3]  Svend Juul,et al.  Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. , 2006, The Journal of clinical endocrinology and metabolism.

[4]  T. Ogata,et al.  Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height , 1993, Human Genetics.

[5]  T. Ogata,et al.  Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency. , 2002, European journal of endocrinology.

[6]  Y. Suehiro,et al.  A case of 46,X,der(X)(pter-->q21::p21-->pter) with gonadal dysgenesis, tall stature, and endometriosis. , 2001, Fertility and sterility.

[7]  T. Ogata,et al.  SHOX haploinsufficiency and overdosage: impact of gonadal function status , 2001, Journal of medical genetics.

[8]  Y. Fukushima,et al.  Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. , 2000, The Journal of clinical endocrinology and metabolism.

[9]  I. Glass,et al.  The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. , 2000, Human molecular genetics.

[10]  T. Ogata,et al.  Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. , 1999, The Journal of clinical endocrinology and metabolism.

[11]  J. Ellison,et al.  PHOG, a candidate gene for involvement in the short stature of Turner syndrome. , 1997, Human molecular genetics.

[12]  A. Rosenthal,et al.  Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome , 1997, Nature Genetics.

[13]  T. J. Gargan.  Turner's syndrome. , 1997, The New England journal of medicine.