APPROACH TO SHORT STATURE presentation for medical students

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1. APPROACH TO SHORT STATURE Tom Bastian 236 Tom Betson Bose 237

2. Definition and epidemiology Short stature is defined as height below the third centile or more than two standard deviation scores (SDS) below the median height for age and gender (<-2 SDS) according to the popul Children whose stature is more than 3 SDS below the population mean for age and gender (<-3 SDS) are more likely to be suffering from pathological short stature Those with stature between -2 and -3 SDS, who are more likely to have physiological, ie ., familial or constitutional short stature

3. Etiology Specific etiologies discussed with differential diagnosis

4. Steps in assessment Accurate height measurement: For children below 2 years the supine length should be measured using infantometer . Rigid headboard and moveable footboard

5. For older children, height should be measured with a stadiometer Frankfort plane (line joining root of external auditory meatus and lower margin of orbit) And The biauricular plane should be horizontal

6. Assessment of height velocity: Height velocity is the rate of increase in height over time, expressed as cm/year Age Average height velocity F irst year 25 cm/ yr Pre-pubertal (4-9 years) 4-6 cm/ yr Puberty (8-13 for girls 9-14 for boys) 8-12 cm/ yr

7. Comparison with population norms: The height should be plotted on appropriate growth charts and expressed in centile or as a standard deviation score Comparison with child’s genetic potential : Parents ' height significantly affects the child's height. Mid-parental height (MPH) gives an approximate estimate of the child's genetic potential.

8. Assessment of body propotions : Short stature can be proportionate or disproportionate. The proportionality is assessed by the upper segment (US): lower segment (LS) ratio and comparison of arm span with height The US can be measured by taking the sitting height of the child. - The child is made to sit on a square stool against the stadiometer's vertical rod. -The headboard is brought down to the vertex, similarly to taking height. -The height of the stool is subtracted from the reading to get the sitting height LS can be obtained by subtracting the US from height. Alternatively, LS can be measured by taking the length from the upper border of the pubic symphysis to the ground while the child stands erect For measuring arm span, the child is asked to stand straight with both arms extended outwards parallel to the ground. The length between the tips of the middle finger of the outstretched hands is the arm span.

9. Normally, the US:LS ratio is 1.7 at birth 1.3 at three years, 1.1 by six years, one by 10 years and 0.9 in adults. An increase in the US: LS ratio is seen in rickets, achondroplasia, and untreated congenital hypothyroidism. A decrease in the US: LS ratio is seen in spondyloepiphyseal dysplasia and vertebral anomalies. Arm span is shorter than the length by 2.5 cm at birth, equals height at 11 years, and after that is slightly (usually, <1 cm) greater than height.

10. Sexual maturity rating Sexual maturity rating (SMR): SMR stage should be assessed in children above 7 years of age it is a scal e used to assess the physical development of adolescents during puberty . Height spurt is seen in early puberty in girls and mid- puberty in boys. Precocious puberty can lead to an early height spurt followed by premature epiphyseal fusion and ultimate short stature. On the other hand, delayed puberty can also present with short stature in adolescents as the height spurt is also delayed.

11. SPECIFIC ETIOLOGIES FAMILIAL SHORT STATURE CONSTITUTIONAL GROWTH DELAY UNDERNUTRITION ENDOCRINE CAUSES SKELETAL DYSPLASIA GENETIC SYNDROMES CHILDREN BORN SMALL FOR GESTATIONAL AGE IDIOPATHIC SHORT STATURE

12. * The child is short as per definition. (height <3rd centile) but is normal according to his genetic potential determined by the parent's height. *Children show catch-down growth between birth and two years of age, so the height and weight lie on their target (mid-parental) centiles by age 2. *Growth velocity remains normal throughout childhood and adolescence. *Bone age equals the chronological age *Puberty is achieved at an appropriate age, and the final height is within the target range FAMILIAL SHORT STATURE

13. CONSTITUTIONAL GROWTH DELAY *These children are born with a normal length and weight and grow normally during the first year *Their growth then decelerates so that the height and weight gradually fall below the 3rd centile. *By three years of age, normal height velocity is resumed, and they continue to grow just below and parallel to the 3rd centile with a normal height velocity *The onset of puberty and adolescent growth spurt is delayed in these children, but the final height is within normal limits. *History of delayed puberty and delayed height spurt is usually present in one or both parents

14. Commonest causes for short stature in our country D etailed dietary history and the presence of other features of malnutrition, such as low mid-upper arm circumference and low weight for height or low body mass index (BMI) for age, suggest the diagnosis . UNDERNUTRITION

15. ENDOCRINE CAUSES Hormonal Deficiencies Growth hormone and Thyroid hormone Hormone excess Cushing syndrome Precocious puberty

16. SKELETAL DYSPLASIAS Inborn errors in the formation of cartilage and bone cause chondrodysplasias or skeletal dysplasias, which are usually associated with abnormal skeletal proportions and severe short stature except hypochondroplasia, where growth retardation is mild).

17. GENETIC SYNDROMES Down, Prader-Willi, Russell-Silver, and Seckel syndromes. Turner-common cause of short stature in girls and should be considered as a diagnostic possibility and investigated for, even if the typical phenotypic features are absent Elevated serum FSH levels in girls older than 8-9 years, and streak ovaries on ultrasound are helpful pointers to the diagnosis Karyotyping being the confirmatory

18. CHILDRENBORN SMALL FOR GESTATIONAL AGE (SGA) * Birth weight below the 10th centile for gestational age can be caused by maternal, placental, or fetal factors. *Most of these infants show catch-up growth by two years of age. *However, an estimated 10-15% of babies born SGA fail to show catch- up growth and remain short. *Subtle defects in the growth hormone and insulin-like growth factor (GH-IGF) axis are considered responsible for the short stature.

19. IDIOPATHIC SHORT STATUTRE POChildren in whom no specific 5 etiology for short stature, such as systemic illness, low birth weight, skeletal dysplasia, endocrine, nutritional or chromosomal abnormality is found are classified as idiopathic short stature Up to 30-40% of all children with short stature may be given a diagnosis of ISS. Children may have subtle abnormalities of GH-IGF axis, or in several of the other regulatory pathways that control chondrogenesis in the growth plates.

20. Psychosocial Dwarfism emotional deprivation dwarfism, maternal deprivation dwarfism, or hyperphagic short stature Seen in children in unhappy homes where the emotional needs of the child are neglected Characterized by functional hypopituitarism indicated by low IGF-1 levels and inadequate response of GH to stimulation. Therapy with GH NOT BENEFICIAL Good catch-up growth is seen when the child is placed in a less stressful environment and nurtured with love and affection.

21. DIFFERENTIAL DIAGNOSIS Diagnosis is based on a detailed history, examination, and laboratory evaluation. Bone age assessment should be done in all children with short stature. Bone age is delayed compared to chronological age in almost all causes of short stature. Exceptions to this are familial short stature , in which bone age equals chronological age, and precocious puberty , in which bone age exceeds chronological age

22. In addition, all children with disproportionate short stature require a skeletal survey to rule out skeletal dysplasia and rickets. Essential screening investigations that should be done in children with short stature are listed in Table 2.10.

23. If these investigations are also normal, then growth hormone deficiency remains the major diagnostic possibility If the child has borderline short stature, i.e., height between -2 and -3 SDS, then it is prudent to wait for 6-12 months and observe for height velocity On the other hand, if the child is significantly short (≤3 SDS) or has documented poor height velocity over 6-12 months, one should proceed to level 3 investigations.

24. MANAGEMENT The general management principles for any child with short stature include counseling parents and dietary advice For physiological causes, reassurance and annual monitoring of height and weight are sufficient. With any form of therapy, regular and accurate monitoring of height velocity is mandatory for a satisfactory outcome. Limb lengthening procedures are offered at a few orthopedic centers for skeletal dysplasias .

25. For hypothyroidism, levothyroxine replacement is advised. Treatment with daily subcutaneous injections of GH is recommended for growth hormone deficiency. GH therapy is also approved for several other conditions though the doses required are generally higher, and improvement in final height is smaller and more variable than GH deficiency. These conditions include Turner syndrome, SGA with inadequate catch-up growth, and chronic kidney disease stage 4-5.  

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