Growth in Sotos syndrome

J C Agwu1, N J Shaw, J Kirk

  • 1City Hospital NHS Trust, Dudley Road, Birmingham B18 7QH, UK.

Insights

Patients with Sotos syndrome are tall from birth through childhood. However, most achieve normal adult height, indicating no need for growth-limiting interventions.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Human Growth and Development

Background:

  • Sotos syndrome is characterized by overgrowth, but final adult height and pubertal development are not well-documented.
  • Existing research provides limited data on the long-term growth trajectory and final stature in individuals with Sotos syndrome.

Purpose of the Study:

  • To investigate the final achieved height and pubertal characteristics in a cohort of patients with Sotos syndrome.
  • To determine if interventions are necessary to manage adult height in individuals diagnosed with Sotos syndrome.

Main Methods:

  • Retrospective collection of growth data from 40 patients (20 female, 20 male) with Sotos syndrome, aged 2 to 31 years.
  • Analysis of growth patterns from birth through adulthood, including limb length contribution to stature.
  • Evaluation of bone age and menarche onset in relation to final height.

Main Results:

  • Patients with Sotos syndrome exhibit excessive height during infancy and childhood, with disproportionately long limbs.
  • Females with Sotos syndrome achieved a mean final height of 172.9 cm (SD 5.7), within the typical population range.
  • Males with Sotos syndrome reached a mean final height of 184.3 cm (SD 6.0), also generally within normal limits, though with more exceptions than in females.

Conclusions:

  • Despite early overgrowth, most individuals with Sotos syndrome attain a final adult height within the normal population range.
  • The combination of advanced bone age and early menarche contributes to the normalization of final height in many patients.
  • Routine intervention to limit adult height is likely unnecessary for the majority of patients diagnosed with Sotos syndrome.

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...