ESPE Abstracts (2019) 92 P1-257

Fetal and Post-Natal Growth are Impaired in Children with Deletions of the GH1 Gene: Description of a Cohort of 14 Patients

Elsa Darvish1, Marie Legendre2,3, Irene Netchine4, Serge Amselem2,3, Frederic Brioude4


1Assistance Publique - Hôpitaux de Paris, Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France. 2Assistance Publique-Hôpitaux de Paris (AP-HP), Département de Génétique Médicale, Hôpital Trousseau, Paris, France. 3Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (Inserm U933), Paris, France. 4Sorbonne Université, Inserm UMR_S938, Assistance Publique - Hopitaux de Paris, Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France


Data on the birth parameters of patients with growth hormone deficiency are contradictory; recent studies suggest that congenital growth hormone deficiency is associated with impaired fetal growth. The main objective of this study was to describe the birth parameters of children with GH-1 gene deletion.

This study included 13 patients (of 10 families) for whom a homozygous (or compound heterozygous) deletion of the entire GH1 gene has been identified, and an additional patient with a deletion of the entire GH1 gene and a deletion of one nucleotide (leading to a frameshift) on the second allele.

Age at diagnosis was from 7 months to 14 years, with a mean height at the time of diagnosis at -7.1 +/- 1.9 SDS. Among the eleven children with an available birth length, mean birth length was -2.4 +/- 0.7 SDS, ranging from 45 to 49 cm, and six had birth length < -2 SDS. Birth weight was normal (-0.4 +/- 1.1 SDS). The mean genetic target height was -1.1 +/- 0,6 SDS. Twelve of the fourteen patients received exogenous GH treatment. In seven of them, the GH treatment allowed a catch-up of growth with a final height close to the target height. The mean final height was -3.26 +/- 1.8 SDS for the whole cohort. For three patients, anti-GH antibodies were detected.

This study reports a large cohort of patients with GH1 deletions. Our results support the hypothesis that GH acts on fetal growth, as children with deletion of the GH1 gene had growth retardation at birth, which worsens after birth.

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