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IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.
Punt, Lauren D; van der Kaay, Daniëlle C M; van Setten, Petra A; de Groote, Kirsten; Kruijsen, Anne R; Bocca, Gianni; de Munnik, Sonja A; Renes, Judith S; de Bruin, Christiaan; Losekoot, Monique; van Duyvenvoorde, Hermine A; Wit, Jan M; Joustra, Sjoerd D.
Afiliación
  • Punt LD; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands.
  • van der Kaay DCM; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.
  • van Setten PA; Department of Paediatrics, Amalia Childrens Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • de Groote K; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands.
  • Kruijsen AR; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands.
  • Bocca G; Division of Paediatric Endocrinology, Department of Paediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
  • de Munnik SA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Renes JS; Dutch Growth Research Foundation, Rotterdam, The Netherlands.
  • de Bruin C; Department of Paediatrics, Albert Schweitzer Hospital, Dordrecht, The Netherlands.
  • Losekoot M; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands.
  • van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Wit JM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Joustra SD; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands.
Horm Res Paediatr ; : 1-11, 2024 Jun 28.
Article en En | MEDLINE | ID: mdl-38952118
ABSTRACT

INTRODUCTION:

The clinical features of bi-allelic IGF1 defects are well established, i.e., severe growth failure and microcephaly, delayed psychomotor development, and sensorineural deafness. However, information on clinical and endocrine consequences of heterozygous IGF1 variants and treatment options is scarce. We aimed at extending the knowledge base of the clinical presentation and growth response to recombinant human growth hormone (rhGH) of patients carrying such variants.

METHODS:

Retrospective case series of patients with pathogenic heterozygous IGF1 variants.

RESULTS:

Nine patients from six families were included, harbouring five whole or partial gene deletions and one frameshift variant resulting in a premature stop codon (three de novo, one unknown inheritance). In the other two families, variants segregated with short stature. Mean (SD) birth length was -1.9 (1.3) SDS (n = 7), height -3.8 (0.6) SDS, head circumference -2.5 (0.6) SDS, serum IGF-I -1.9 (0.7) SDS, serum IGFBP-3 1.1 (0.4) SDS (n = 7), and GH peak range 5-31 µg/L (n = 4). Five patients showed feeding problems in infancy. Average height increased after 1 and 2 years of rhGH treatment by 0.8 SDS (range 0.3-1.3 SDS) and 1.3 SDS (range 0.5-2.0 SDS), respectively. Adult height in 2 patients was -2.8 and -1.3 SDS, which was, respectively, 1.3 and 2.9 SDS taller than predicted before start of treatment.

CONCLUSION:

Haploinsufficiency of IGF1 causes a variable phenotype of prenatal and postnatal growth failure, microcephaly, feeding difficulties, low/low-normal serum IGF-I values in contrast to serum IGFBP-3 in the upper-normal range. Treatment with rhGH increased growth in the first 2 years of treatment, and in 2 patients adult height after treatment was higher than predicted at treatment initiation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Suiza