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|IMAGES IN MEDICINE
|Year : 2014 | Volume
| Issue : 3 | Page : 322-323
S Guleria1, J Sharma1, SL Kaushik2
1 Department of Pediatrics, Dr. Rajendra Prasad Government Medical College, Kangra, Himachal Pradesh, India
2 Department of Pediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
|Date of Web Publication||14-Aug-2014|
Dr. S Guleria
Department of Pediatrics, Dr. Rajendra Prasad Government Medical College, Kangra, Himachal Pradesh
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Guleria S, Sharma J, Kaushik S L. Laron syndrome. J Postgrad Med 2014;60:322-3
Laron syndome is named after Zvi Laron, the Israeli researcher who first reported this condition in 1966. It is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and, hence, dwarfism results.  We present a brief description of two patients of this rare disease and attempt to highlight the need for early diagnosis and treatment.
A male child aged 7 years and 7 months, a product of non-consanguineous marriage, was born at term by vaginal delivery at home, and cried immediately after birth. He was admitted with the complaint of not growing well since the age of 1 year. Birth weight, though unrecorded, was comparable with peers. There was no history suggestive of birth asphyxia, neonatal seizures, or neonatal jaundice. Child grew well in height and weight till a year of age, but subsequent growth was retarded. There was no history suggestive of any chronic systemic illness. Father and mother are of Aryan sub-race of Caucasian ethnicity, with heights of 168 cm and 152 cm, respectively. There was no family history of any chronic organic, infective, or metabolic illness. Developmentally the child was normal. His weight was 8 kg (expected weight 21 kg) and he was severely malnourished. His height was 71.5 cm (<−3 SD), he was severely stunted [Figure 1], and his weight for height was normal (88%). Upper segment: Lower segment ratio was 1.2:1, linear growth arrested around 1 year of age, arm span was 70 cm, mid arm circumference was 14.5 cm, and head circumference was 46.5 cm (<−3 SD). Frontal prominence was present, hairs were silky and sparse, nasal bridge was depressed, and ears were low set. Crowding of teeth was present [Figure 2] and the scrotum was hypoplastic [Figure 3]. Right testis was undescended. Penile size was 2.0 cm in length (normal 6.2 ± 1). Complete blood counts and renal and liver function tests were within normal limits. Fasting blood glucose, serum electrolytes, and blood pH were normal. X-ray of wrist revealed a bone age at 2 years [Figure 4]. Thyroid function tests (TFTs) were within normal limits. Growth hormone level (after insulin provocation) was elevated (119 ng/ml). But serum insulin-like growth factor-1 (IGF-1) level was 37 ng/ml, which was much below the reference range (109-284 ng/ml).
The second patient was the only sibling of the first patient. It was a 5.5-year-old male child who was admitted with similar complaints of not growing well since the age of 1.5 years, with similar history and clinical features of depressed nasal bridge, crowded teeth [Figure 5], sparse hair, and infantile genitalia [Figure 6] He was also severely stunted with a height of 72.5 cm (<−3 SD); weight for height, upper segment and lower segment ratio, and arm span were normal. Head circumference of the child was 46 cm (<−3 SD). All investigations in this child were normal except delayed bone age (2 years) [Figure 7], raised growth hormone level (after provocation) of 98 ng/ml, and low level of IGF-1 (42 ng/ml).
Laron-type dwarfism is an autosomal recessive genetic disorder caused by a defect in the growth hormone receptor (GHR). , The diagnosis of Laron syndrome (LS) in these siblings was based on the characteristic clinical features; ,,, the high serum values of growth hormone, and the low IGF-I serum levels after stimulation. Both children had clinical features of growth hormone deficiency, but when investigated, they showed a high level of growth hormone and low serum level of IGF-1. Laron-type dwarfism can result from a defect in the structural gene for the GHR. , In the following years, patients from many parts of the world were investigated, with defects of the GHR such as exon deletions to nonsense, frameshift, splice, and missense mutations of exons and introns. ,, Molecular study for GHRs could not be done in these siblings due to financial constraints. Treatment consists of administration of recombinant human IGF-1, frequent meals to avoid hypoglycemia (especially during infancy), regular monitoring of growth and development, and regular monitoring of blood sugar levels and adverse effects of IGF-1 therapy. ,
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]