Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Autor(es):Mostrar menos -

Homma, Thais K. ^{[1, 2]} ; Freire, Bruna L. ^{[1, 2]} ; Honjo, Rachel ^[3] ; Dauber, Andrew ^[4] ; Funari, Mariana F. A. ^[2] ; Lerario, Antonio M. ^[5] ; Albuquerque, Edoarda V. A. ^[1] ; Vasques, Gabriela A. ^[1] ; Bertola, Debora R. ^[3] ; Kim, Chong A. ^[3] ; Malaquias, Alexsandra C. ^{[1, 6]} ; Jorge, Alexander A. L. ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] FMUSP, Disciplina Endocrinol, Lab Endocrinol Celular & Mol LIM25, Unidade Endocrinol Genet, Sao Paulo - Brazil

^[2] FMUSP, Hosp Clin, Lab Hormonios & Genet Mol LIM42, Unidade Endocrinol Desenvolvimento, Sao Paulo - Brazil

^[3] Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet, Inst Crianca, Sao Paulo - Brazil

^[4] Childrens Natl Hlth Syst, Div Endocrinol, Washington, DC - USA

^[5] Univ Michigan, Dept Internal Med, Div Metab Endocrinol & Diabet, Ann Arbor, MI 48109 - USA

^[6] Fac Ciencias Med Santa Casa Sao Paulo, Irmandade Santa Casa Misericordia Sao Paulo, Dept Pediat, Unidade Endocrinol Pediat, Sao Paulo - Brazil

• Tipo de documento: Artigo de Revisão
• Fonte: Hormone Research in Paediatrics; v. 92, n. 2, p. 115-123, JAN 2020.
• Citações Web of Science: 0

Resumo

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by dysmorphic facial features, short stature, and expressive language delay. Objective: The aim of this study was to describe a cohort of patients with FHS and review the literature about the response to recombinant human growth hormone (rhGH) therapy. Methods: Anthropometric and laboratory data from 7 patients with FHS were described. The molecular diagnosis was established by multigene analysis. Moreover, we reviewed the literature concerning patients with FHS treated with rhGH. Results: All 7 patients were born small for gestational age. At first evaluation, 6 patients had a height standard deviation score (SDS) <=-2 and 1 had short stature in relation to their target height. Bone age was usually delayed, which rapidly advanced during puberty. Nonspecific skeletal abnormalities were frequently noticed, and normal to elevated plasma IGF-I levels were observed in all except 1 patient with growth hormone deficiency. Information about 20 patients with FHS treated with rhGH was analyzed (4 from our cohort and 16 from the literature). The median height changes during the treatment period (approx. 2.9 years) were 1.1 SDS (range from -0.4 to 3.1). Nontreated patients had an adult height SDS of -4.1 +/- 1.2 (n = 10) versus -2.6 +/- 0.8 SDS (n = 7, p 0.012) for treated patients. Conclusion: We observed a laboratory profile compatible with IGF-1 insensitivity in some patients with FHS. Nevertheless, our study suggests that children with FHS may be considered as candidates for rhGH therapy. Further studies are necessary to establish the real benefit and safety of rhGH therapy in these patients. (AU)

• Processo FAPESP: 14/50137-5 - Caracterização molecular de doenças monogênicas do desenvolvimento por sequenciamento em larga escala
• Beneficiário: Berenice Bilharinho de Mendonça
• Modalidade de apoio: Auxílio à Pesquisa - Programa Equipamentos Multiusuários
• Processo FAPESP: 13/03236-5 - Novas abordagens e metodologias na investigação genético-molecular dos distúrbios de crescimento e desenvolvimento puberal
• Beneficiário: Alexander Augusto de Lima Jorge
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 15/26980-7 - Causas genéticas de distúrbio de crescimento de início pré-natal
• Beneficiário: Thais Kataoka Homma
• Modalidade de apoio: Bolsas no Brasil - Doutorado