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Review of Turkish patients with growth hormone insensitivity (Laron type)
N Yordam1, N Kandemir, I Erkul
1Division of Pediatric Endocrinology, Hacettepe University, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.
Insights
This study presents thirteen Turkish children with severe growth hormone insensitivity, showing significant growth deficits. New recombinant human insulin-like growth factor-I therapy may benefit these patients.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Growth hormone insensitivity (GHI) is a rare condition characterized by impaired response to growth hormone (GH).
- Children with GHI often present with severe short stature and distinct phenotypic features.
- Genetic factors, including consanguinity, may contribute to the prevalence of GHI.
Purpose of the Study:
- To describe the clinical and endocrine characteristics of Turkish children with GHI.
- To evaluate diagnostic markers including height standard deviation score (SDS), GH, insulin-like growth factor I (IGF-I), and GH binding protein (GHBP).
- To explore potential therapeutic options for GHI.
Main Methods:
- Retrospective analysis of 13 Turkish children (0.3-14.2 years) diagnosed with GHI.
- Assessment of height SDS, weight for height index, bone age/height age ratio.
- Endocrine testing including basal GH, IGF-I, IGF-I response to GH stimulation, and GHBP levels.
Main Results:
- Patients exhibited severe short stature (median height SDS -7.4) and features of GH deficiency.
- Low basal IGF-I levels (<10 ng/ml) and undetectable GHBP were common.
- No significant IGF-I response to GH injections was observed in any patient.
Conclusions:
- The study highlights the clinical spectrum and endocrine profile of GHI in Turkish children.
- Consanguinity and specialized center referrals may explain the patient cohort size.
- Recombinant human IGF-I therapy presents a promising treatment avenue for these patients.
Abstract:
Clinical spectrum and endocrine details of thirteen Turkish children (age 0.3-14.2 years; eight females and five males; ten prepubertal, three pubertal) with growth hormone insensitivity are presented. All patients display phenotypical features of severe growth hormone deficiency. The diagnosis based on height standard deviation score (SDS), basal growth hormone (GH), basal insulin-like growth factor I (IGF-I, IGF-I response in an IGF generation test and growth hormone binding protein (GHBP) measurements. The median height SDS was -7.4 (range -3.2 to -10), weight for height index was 100 (range 81-152) and bone age/height age ratio was 2 (range 1.6-3.3). Endocrine investigations showed a median basal GH concentration of 61.4 mU/l (range 23.5-120 mU/l). Basal IGF-I level was below 10 ng/ml in all patients except one. None of the patients showed a significant IGF-I response to injections of GH (0.1 U/kg body weight for 4 days). The median IGFBP-3 level was 0.23 mg/l (range 0.1-0.56 mg/l). The GHBP level was undetectable in all of 10 patients. The high number of patients in our center may be due to the high rate of consanguinity among the Turkish population and the referral facility of our center in the area. These patients may benefit from the new therapy with recombinant human IGF-I.