Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency


Autoria(s): SCALCO, Renata C.; MELO, Suzana S. J.; PUGLIESE-PIRES, Patricia N.; FUNARI, Mariana F. A.; NISHI, Mirian Y.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B.; JORGE, Alexander A. L.
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

19/10/2012

19/10/2012

2010

Resumo

Context: Isolated heterozygous SHOX defects are the most frequent monogenic cause of short stature, and combined therapy with recombinant human GH (rhGH) and GnRH analog (GnRHa) in pubertal patients has been suggested, but there are no data on final height. Objective: The aim of the study was to analyze adult height after rhGH and GnRHa therapy in patients with SHOX haploinsufficiency. Patients: Ten peripubertal patients with isolated SHOX defects participated in the study. Intervention: Five patients were followed without treatment, and five were treated with rhGH (50 mu g/kg/d) and depot leuprolide acetate (3.75 mg/month). Main Outcome Measures: Adult height SD score (SDS) was measured. Results: All patients followed without treatment had marked downward growth shift during puberty (height SDS, -1.2 +/- 0.7 at 11.4 +/- 1.4 yr; adult height SDS, -2.5 +/- 0.5). Conversely, four of five patients treated with rhGH for 2 to 4.9 yr associated to GnRHa for 1.4 to 5.8 yr improved their height SDS from -2.3 +/- 1.3 at 11.8 +/- 2.1 yr to a final height SDS of -1.7 +/- 1.6. The difference between the mean height SDS at the first evaluation and final height SDS was statistically significant in nontreated vs. treated patients (mean height SDS change, -1.2 +/- 0.4 vs. 0.6 +/- 0.4, respectively; P < 0.001). Conclusion: A gain in adult height of patients with isolated SHOX defects treated with combined rhGH and GnRHa therapy was demonstrated for the first time, supporting this treatment for children with SHOX defects who have just started puberty to avoid the loss of growth potential observed in these patients during puberty. (J Clin Endocrinol Metab 95: 328-332, 2010)

FAPESP Fundacao de Amparo a Pesquisa do Estado de Sao Paulo[05/04726-0]

CNPq Conselho Nacional de Desenvolvimento Cientifico e Tecnologico[307951/06-5]

CNPq Conselho Nacional de Desenvolvimento Cientifico e Tecnologico[301246/95-5]

CNPq Conselho Nacional de Desenvolvimento Cientifico e Tecnologico[300938/06-3]

Identificador

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v.95, n.1, p.328-332, 2010

0021-972X

http://producao.usp.br/handle/BDPI/21190

10.1210/jc.2009-1577

http://dx.doi.org/10.1210/jc.2009-1577

Idioma(s)

eng

Publicador

ENDOCRINE SOC

Relação

Journal of Clinical Endocrinology & Metabolism

Direitos

restrictedAccess

Copyright ENDOCRINE SOC

Palavras-Chave #LERI-WEILL DYSCHONDROSTEOSIS #IDIOPATHIC SHORT STATURE #TURNER-SYNDROME #HAPLOINSUFFICIENCY #HEIGHT #GENE #PHENOTYPES #CHILDREN #FAILURE #TRIAL #Endocrinology & Metabolism
Tipo

article

original article

publishedVersion