Pediatric Endocrinology Diabetes and Metabolism
en POLSKI
eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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abstract:
Original paper

A comprehensive clinical and molecular genetic analysis of syndromic short stature children and response to recombinant growth hormone therapy

Subbiah Sridhar
1
,
Sreenivasan Palaniappan
1
,
Dhivya Shanmugam
1
,
M Kathirvel
2
,
Palanivel Sengottaiyan
1
,
SenthilKumar Jeyachandran
3

  1. Department of Endocrinology, Madurai Medical College and Government Rajaji Hospital, Madurai, India
  2. Department of Medical Genetics, Apollo Hospitals, Chennai, India
  3. Department of Pediatrics, Madurai Medical College and Government Rajaji Hospital, Madurai, India
Pediatr Endocrinol Diabetes Metab 2026; 32
DOI: https://doi.org/10.5114/pedm.2026.159652
Online publish date: 2026/03/26
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Introduction
Syndromic short stature (SSS) is a rare form of severe short stature with a diverse clinical and genetic spectrum. Since the advent of molecular diagnostics, SSS has been increasingly diagnosed. Due to non-availability of targeted molecular therapies, recombinant human growth hormone (rhGH) therapy is the most commonly used growth-promoting treatment.

Aim
To study the clinical and genetic characteristics of children with SSS and assess the therapeutic effect of rhGH therapy.

Material and methods
Retrospective data were collected from children with severe short stature with genetically confirmed syndromic etiologies who were on a minimum of one year of rhGH therapy. The height velocity and height standard deviation score (SDS) were analyzed and compared at baseline and one year.

Results
Sixteen children with SSS (8 males, 8 females) were included. The mean age at presentation was 9.13 ±2.13 years, and the median baseline height SDS was –4.2 [interquartile range (IQR): –5.28 to –3.28]. Twelve different SSS etiologies were identified. The median (IQR) change in height SDS (D height SDS) after one year of rhGH therapy was +0.57 [0.47–0.71; 95% confidence interval 0.33–0.89, p = 0.003]. None of the children had treatment-related adverse effects.

Conclusions
rhGH therapy significantly improves growth velocity in various short stature syndromes. A trial of rhGH therapy may be initiated in most SSS children after balancing risks, benefits, and treatment outcomes.

keywords:

syndromic short stature, dysmorphic syndrome, recombinant growth hormone therapy, whole-exome sequencing, MS-MLPA, small for gestational age


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