ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 15 Issue: 4 Year: 2023
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Turkish Society for Pediatric Endocrinology and Diabetes
Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2010; 2(4): 164-167 | DOI: 10.4274/jcrpe.v2i4.164

Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation

Zeynep Şıklar1, Merih Berberoğlu1, Maria Legendre2, Serge Amselem2, Olcay Evliyaoğlu1, Bülent Hacıhamdioğlu1, Şenay Savaş Erdeve1, Gönül Öçal1
1Ankara University, School Of Medicine, Department Of Pediatric Endocrinology, Ankara, Turkey
2Service De Genetique Medicale, Hopital Armand-Trousseau, Paris F-75012 France; Inserm U933, Hopital Armand-Trousseau, Paris F-75012 France

Patients with growth hormone releasing hormone receptor (GHRHR) mutations exhibit pronounced dwarfism and are phenotypically and biochemically indistinguishable from other forms of isolated growth hormone deficiency (IGHD). We presented here two siblings with clinical findings of IGHD due to a nonsense mutation in the GHRHR gene who reached their target height in spite of late GH treatment. Two female siblings were admitted to our clinic with severe short stature at the age of 13.8 (patient 1) and 14.8 years (patient 2). On admission, height in patient 1 was 107 cm (-8.6 SD) and 117 cm (-6.7 SD) in patient 2. Bone age was delayed in both patients (6 years and 9 years). Clinical and biochemical analyses revealed a diagnosis of complete IGHD (peak GH levels on stimulation test was 0.06 ng/mL in patient 1 and 0.16 ng/mL in patient 2). Patients were given recombinant human GH treatment. Genetic analysis of the GH and GHRHR genes revealed that both patientscarried the GHRHR gene mutation p.Glu72X (c.214 G>T) in exon 3 in homozygous (or hemizygous) state. After seven years of GH treatment, the patients reached a final height appropriate for their target height. Final height was 151 cm (-1.5 SD) in patient 1 and 153 cm (-1.2 SD) in patient 2. In conclusion, genetic analysis is indicated in IGHD patients with severe growth failure and a positive family history. In spite of the very late diagnosis in these two patients who presented with severe growth deficit due to homozygous loss-of-function mutations in GHRHR, their final heights reached the target height.

Keywords: GHRHR mutation,final height,transition,GH deficiency

Zeynep Şıklar, Merih Berberoğlu, Maria Legendre, Serge Amselem, Olcay Evliyaoğlu, Bülent Hacıhamdioğlu, Şenay Savaş Erdeve, Gönül Öçal. Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation. J Clin Res Pediatr Endocrinol. 2010; 2(4): 164-167
Manuscript Language: English
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