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| APPROACH TO SHORT STATURE
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CHRISTMAS PEDICON 2005, RAJKOT
Dr. Mathew John,
MD, DM (Endo), DNB (Endo)
Consultant Endocrinologist, Kerala Institute of Medical Sciences, Trivandrum.
Dr. Nalini S. Shah,
MD, DM (Endo)
Prof. & Head, Dept of Endocrinology, Seth G.S. Medical College & KEM Hospital.
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Table 1 : Classification of Growth Retardation
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- Primary Growth Abnormalities
- Osteochondrodysplasias
- Chromosomal abnormalities
- Intrauterine growth retardation
- Secondary Growth Disorders
- Malnutrition
- Chronic disease
- Malabsorption and Gastrointestinal Diseases
- Anemia
- Chronic Liver Disease
- Cardiovascular Disease
- Renal Disease
- Diabetes Mellitus
- Pulmonary Disease
- Endocrine disorders
- Hypothyroidism
- Cushing's syndrome
- Pseudohypoparathyroidism
- Rickets a. Vitamin D-resistant rickets
- IGF deficiency
- GH deficiency and insufficiency
- GH insensitivity
- Idiopathic Short Stature
- Genetic short stature
- Constitutional delay of growth and maturation
- Heterozygous defects of the GH receptor.
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Table 2 : Assessment of a Short Child
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- 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
- 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.
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Table 3 :
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Table 4 : Classification of GH deficiency syndromes (4, 49, 84)
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A) CONGENITAL CAUSES
- Hormone gene defects
| Gene defect
| Inheritance
| Hormonal deficits
| Associated features
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| GHRH gene
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Not described
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| GHRH receptor
| AR
| GH
| Dwarfism of Sindh
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| GH-1 gene –type 1A
| AR
| GH
| No GH produced
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| GH-1 gene –type 1B
| AR
| GH
| Abnormal GH
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| GH-1 gene –type II
| AD
| GH
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| GH-1 gene –type III
| X linked
| GH
| Hypogammaglobulinemia
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| Bioinactive GH
| AD
| GH
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- Abnormal pituitary development
| PROP1
| AR
| GH, TSH, Prl, LH, FSH+ ACTH
| Pituitary hyperplasia
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| Pit-1 (POU1F1)
| AR
| GH, TSH, Prl
| Anterior pituitary hypoplasia
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| HESX1
| AR / AD
| GH, TSH, Prl, LH, FSH+ ACTH
| Septooptic dysplasia
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| Lhx3
| AR
| GH, TSH, Prl, LH, FSH GH, TSH, Prl, LH, FSH
| Rigid cervical spine
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| Lhx4
| AD
| GH, TSH, ACTH
| Cerebellar tonsil herniation
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| Pitx2 (REIG)
| AD
| ? GH / Prl
| Reiger's syndrome
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| SOX3
| X linked
| GH
| Mental retardation
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- Associated with structural defects of the brain
- Agenesis of corpus callosum
- Septooptic dysplasia
- Holoprosencephaly
- Encephalocoele
- Hydrocephalus
- Associated with midline facial defects
- Cleft lip and palate
- Single central maxillary incisor
- Miscellaneous
- Prader Willi syndrome
B. ACQUIRED
- Trauma : perinatal trauma, postnatal trauma
- Infections : meningitis, encephalitis
- Langerhans cell histiocytosis
- CNS tumors : craniopharyngioma, pituitary germinoma, pituitary adenoma, optic glioma
- Post cranial radiation
- Post chemotherapy
- Pituitary infarction
- Psychosocial deprivation
- Neurosecretory dysfunction
- Hypothyroidism
- Thalassemia
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Table 5 : Classification of growth hormone insensitivity
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| (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
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| (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
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Table 6 : Tests to Provoke Growth Hormone Secretion
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| Test
| Procedure
| Sampling
| Comments
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Exercise
| Step climbing; exercise cycle for 10 min.
| 0, 10, 20
| Observe child closely when on the steps
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Levodopa
| <15 kg: 125 mg
10-30 kg: 250 mg
> 30 kg: 500 mg
| 0, 60, 90
| Nausea, rarely emesis
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Clonidine hypotension
| 0.15 mg/m2
| 0, 30, 60, 90
| Tiredness, postural
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Arginine HCI (IV)
| 0.5 g/kg (max 30 g) 10% arginine HCI in 0.9% NaCI over 30 min.
| 0, 15, 30, 45, 60
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Insulin (IV)
| 0, 15, 30, 60, 75, 90, 120
| 0, 15, 30, 60,
75, 90, 120
| Hypoglycemia, requires close supervision
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Glucagon (IM)
| 0.03 mg/kg (max 1 mg)
| 0, 30, 60, 90,
120, 150, 180
| Nausea, occasional emesis
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GHRH (IV)
| 1 µ g/kg
| 0, 15, 30, 45,
60, 90, 120
| Flushing, metallic taste
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| GHD, growth hormone deficiency; GHRH, growth hormone-releasing hormone; IM, intramuscular; IV, intravenous. |
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Table 7 :
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Last Updated on 15-08-2006
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| How to cite this url |
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Christmas Pedicon 2005 - Conference Abstracts.Pediatric Oncall [serial online] 2006 [cited 15 August 2006(Supplement 8)];3. Available from:
http://www.pediatriconcall.com/fordoctor/Conference_abstracts/
CHRISTMAS_PEDIACON/approach_short_stature.asp
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