Category: Other - GROWTH AND IGF-1 AXIS

Monitor: 15

15 - TWO SIBLINGS WITH SEVERE PROPORTIONATE SHORT STATURE

Thursday, Apr 25
1:30 PM – 2:00 PM

Objective : Two sinblings, the first aged 2 years 7 months old and the otheraged 1 year 5 months old, presented with severe proportionate short stature with an SDS less than -5.


Methods : Two sfemale iblings, bor of 2nd degree consanguinity presented with severe proportionate short stature. Length of the first girl who was 2 years 7 months old at presentation was 65 cm with an SDS score less than -5 and weight was 6 kg which corresponded to a weight age of 9 months. There were no reported episodes f hypoglycemia. The length of the second girl who was 1 year 5 months old at presentation was 65 cm with an SDS score less than -5 and weight was 5 kg which corresponded to a weight age of 6 months. There were no reported episodes f hypoglycemia. Both siblings had frontal bossing and mid-facial hypoplasia. Mid-parental height was 153.5 cm


Results : On evaluation, both girls had very low Insulin Like growth factor levels of less than 25 ng/ml and basal Growth Hormone levels of Sibling 1 was 61 ng/ml and Sibling 2 was 50ng/ml. Genetic evaluation revealed a homozygous deletion of exon 7 of GH receptor gene in probands, consistent with Laron's syndrome. The same mutation was not found in either parent


Discussion : IGF-1 deficiency, eponymously labelled Laron's syndrome, is an autosomal recessive condition, commonly seen in consanguineous families from Asia, South America and parts of India. •Characterized by clinical features of growth hormone (GH) deficiency and biochemical findings suggestive of GH resistance. Short stature (height SDS between -4 to -10SD) is associated with typical facies, obesity, acromicra, high basal GH, and low IGF-1. Due to –defects in the extracellular, transcellular, and intracellular domain of GH receptor. Unresponsive to GH therapy and require treatment with IGF-1 or IGF-1 and IGF-BP3 complex. Hypoglycemia is a not uncommon occurrence during therapy.if treated, longevity can be normal with normal puberty and good quality of life.


Conclusion : Here , we report two siblings with severe proportionate short stature, born of 3rd degree consanguinity,, who were discovered to have a IGF-1 deficiency on genetic analysis due to a homozygous deletion of exon 7 GH receptor gene.

SHORT URL FUNCTION-->

V. Sri Nagesh

CONSULTANT
ENDOCRINOLOGIST
Hyderabad, India

MD, PEDIATRICS OSMANIA MEDICAL COLLEGE, DM ENDOCRINOLOGY OSMANIA EMDICAL COLLEGE

ANDREW DAUBER

RON ROSENFELD

RON ROSENFELD

VIVIAN HWA

KANITHI RAVISHANKAR