APPROACH TO SHORT STATURE
Dr. Mathew John, MD, DM (Endo), DNB (Endo) *, Dr. Nalini S. Shah, MD, DM (Endo) **
Consultant Endocrinologist, Kerala Institute of Medical Sciences, Trivandrum. *, Prof. & Head, Dept of Endocrinology, Seth G.S. Medical College & KEM Hospital.**
Table 1: Classification of Growth Retardation
  1. Primary Growth Abnormalities
    1. Osteochondrodysplasias
    2. Chromosomal abnormalities
    3. Intrauterine growth retardation
  2. Secondary Growth Disorders
    1. Malnutrition
    2. Chronic disease
      1. Malabsorption and Gastrointestinal Diseases
      2. Anemia
      3. Chronic Liver Disease
      4. Cardiovascular Disease
      5. Renal Disease
      6. Diabetes Mellitus
      7. Pulmonary Disease
    3. Endocrine disorders
      1. Hypothyroidism
      2. Cushing's syndrome
      3. Pseudohypoparathyroidism
      4. Rickets a. Vitamin D-resistant rickets
      5. IGF deficiency
        • GH deficiency and insufficiency
          • Congenital
          • Acquired
        • GH insensitivity
          • Primary
          • Secondary
  3. Idiopathic Short Stature
    • Genetic short stature
    • Constitutional delay of growth and maturation
    • Heterozygous defects of the GH receptor.
Table 2 : Assessment of a Short Child
  1. History:
    • Exact age, ethnicity
    • Birth history including birth weight, presentation at birth, signs and symptoms of GHD at birth (Micropenis, hypoglycemia, jaundice)
    • Milestones
    • Onset of short stature
    • Any history suggestive of chronic diseases: cardiac symptoms, polyuria, malabsorption, tetany and seizures, rachitic deformities, hypothyroidism
    • Childhood CNS infections and treatment including TB meningitis
    • Signs of raised intracranial tension and visual abnormalities
    • Intracranial surgery, childhood malignancies, chemotherapy and craniospinal radiation
    • Weight gain, feeding abnormalities, mental subnormality, abnormal behavior
    • Pubertal status
    • Drug history, including chronic steroid intake, testosterone injection etc.
    • Psychosocial history
    • Family history including consanguinity, short stature and deformities, delayed puberty

  2. Examination:
    • Height (centile), Weight (centile), Segments (US: LS ratio), Arm span, Midparental height
    • Pulse rate, blood pressure including lower limb BP and radiofemoral delay
    • Signs of systemic disease: pallor, edema, goiter, clubbing, cyanosis, vitamin deficiency, signs of malnutrition, rickets.
    • Dentition and dental age
    • Stigmata of skeletal dysplasia
    • Stigmata of Turner's syndrome and other syndromic short stature (Noonan, Prader Willi, Russel Silver syndrome, Seckel syndrome, Albrights osteodystrophy phenotype)
    • Stigmata of GH deficiency (frontal bossing, midfacial hypoplasia, abdominal fat pads)
    • Midline defects (single central incisor, cleft lip and palate)
    • Systemic examination: CVS, chest and abdomen
    • Signs of CPHD (Micropenis, hypothyroidism)
    • Central nervous system including fundus (esp. optic disc) and visual fields.
Table 3: Investigations in a short child



Table 4 : Classification of GH deficiency syndromes (4, 49, 84)
A) CONGENITAL CAUSES
  1. Hormone gene defects
    Gene defect Inheritance Hormonal deficits Associated features
    GHRH gene     Not described
    GHRH receptor AR GH Dwarfism of Sindh
    GH-1 gene-type 1A AR GH No GH produced
    GH-1 gene-type 1B AR GH Abnormal GH
    GH-1 gene-type II AD GH  
    GH-1 gene-type III X linked GH Hypogammaglobulinemia
    Bioinactive GH AD GH  

  2. Abnormal pituitary development
    PROP1 AR GH, TSH, Prl, LH, FSH+ ACTH Pituitary hyperplasia
    Pit-1 (POU1F1) AR GH, TSH, Prl Anterior pituitary hypoplasia
    HESX1 AR / AD GH, TSH, Prl, LH, FSH+ ACTH Septo-optic dysplasia
    Lhx3 AR GH, TSH, Prl, LH, FSH GH, TSH, Prl, LH, FSH Rigid cervical spine
    Lhx4 AD GH, TSH, ACTH Cerebellar tonsil herniation
    Pitx2 (REIG) AD ? GH / Prl Reiger's syndrome
    SOX3 X linked GH Mental retardation

  3. Associated with structural defects of the brain
    1. Agenesis of corpus callosum
    2. Septo-optic dysplasia
    3. Holoprosencephaly
    4. Encephalocoele
    5. Hydrocephalus
  4. Associated with midline facial defects
    1. Cleft lip and palate
    2. Single central maxillary incisor
  5. Miscellaneous
    1. Prader Willi syndrome

B. ACQUIRED CAUSES
  1. Trauma: perinatal trauma, postnatal trauma
  2. li>Infections: meningitis, encephalitis
  3. Langerhans cell histiocytosis
  4. CNS tumors: craniopharyngioma, pituitary germinoma, pituitary adenoma, optic glioma
  5. Post cranial radiation
  6. Post chemotherapy
  7. Pituitary infarction
  8. Psychosocial deprivation
  9. Neurosecretory dysfunction
  10. Hypothyroidism
  11. Thalassemia
Table 5: Classification of Growth Hormone Insensitivity

(i) Primary GH insensitivity
  • Growth hormone receptor (GHR) defects (quantitative and qualitative)
  • Abnormalities of GH signal transduction (postreceptor defects)
  • Primary defects of insulin like growth factor-1 (IGF-I) synthesis or secretion
  • Bioinactive GH molecule
(ii) Secondary GH insensitivity
  • Circulating antibodies of GH that inhibit GH action
  • Antibodies to the GHR
  • GHI caused by malnutrition
  • GHI caused by liver disease
Table 7: Investigation of suspected disorder of GH-IGF-1 Axis

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