Short stature Dr ali mazaheri MD

Phases of growth The infantile phase The childhood phase The pubertal phase

Importance of growth monitoring Normal growth is a sign of good health in children Monitoring growth allows detection of the causes of poor growth Early recognition of poor growth allows early intervention

height of an individual Depends on genetics nutritional status hormonal milieu various environmental factors

The child should be fully erect, with the head in the Frankfurt plane; the back of the head, thoracic spine, buttocks, and heels should touch the vertical axis of the stadiometer, and the heels should be together. lengths and heights be measured in triplicate, that variation should be no more than 0.3 cm, and that the mean height should be recorded .

definition A child who is 2 standard deviations (SD) or more below the mean height for children of that sex and chronologic age is said to have short stature.

Deviation from normal pattern of growth can be the first manifestation of a wide variety of disease processes, including : endocrine and nonendocrine disorders .

Evaluation of growth Is the child short ? Does the child have dysmorphic features or disproportionate short stature? Although the child is short, is his or her growth velocity impaired?

Growth chart

Short stature =HT<–2 SD (3rd) –3 –2 –1 Mean +1 +2 +3 Increasing pathology Short stature Percentile: 1 3 10 25 50 75 90 97 99 Short stature =HT<–2 SD (3rd) )

Height velocity

Subnormal growth 1-2 yr < 10 cm 2-3 yr < 7 cm 3-4 yr < 6 cm 4 yr - Puberty < 4 cm

Target height is calculated based on midparental height Target midparental height (boys) = (father’s height + mother's height) + 6.5 2 Target midparental height (girls) = (father’s height + mother's height) – 6.5 2

Clinical assessment of short stature Family history Clinical judgement Auxological data Decision to investigate Actual height (cm) Difference between height and target height SDS Height velocity (cm/year) Evaluations

Definition of short stature Normal short stature : Height 1-2 SD below mean. Short stature ,possibly abnormal : Height 2-3 SD below mean. Pathologic short stature ,abnormal : Height 3 SD below mean.

European Society for Paediatric Endocrinology classification of short stature Primary growth failure Clinically defined syndromes, e.g. TS, NS and PWS SGA Skeletal dysplasia Secondary growth failure Malnutrition Disorders in organ systems, e.g. renal disorders GH deficiency Other disorders of the GH–IGF axis Other endocrine disorders, e.g. Cushing syndrome Metabolic disorders Psychosocial disorders Iatrogenic disorders, e.g. glucocorticoid therapy and treatment of childhood malignancy Idiopathic short stature Familial short stature Non-familial short stature

Screening Tests CBC BUN , Cr , Na , K , VBG LFT Ca , P U/A , U/C TTg IgA ab , total IgA Karyotype (in short girls) TSH Bone Age IGF-1 and IGFBP3 ˃ 2 SD below the mean GH test

A family seeks evaluation and treatment of short stature in their 11 A family seeks evaluation and treatment of short stature in their 11.5-year-old son. He previously was in the 3rd percentile for height, but his growth rate has slowed during the past 2 years. his height is now just below the 1st percentile

His mother is 152 cm, and his father is 167 cm. His medical history and a review of systems are unremarkable. His physical examination is normal and shows prepubertal development. The lab test and growth hormone levels after provocative testing are normal. His skeletal maturation (bone age) is approximately 9 years. The child’s size at birth was normal. his predicted adult height is 165 cm +or- 3.3 cm.

Constitutional Delay of Growth The diagnosis suspected if one or both parents have a history of a late timing of puberty An increase in growth velocity after treatment with a short course of sex hormone can be against the presence of GHD Normal growth hormone levels Height ≤ 3rd percentile but with annual growth rate >5th percentile for age Delayed puberty Delayed bone age Normal predicted adult height

Idiopathic Short Stature ISS is defined as height is ˃2 SD score (SDS) below the mean height for age, sex, and population group No evidence of systemic, endocrine, nutritional, or chromosomal abnormalities normal birth weight and are GH sufficient FDA approved GH treatment (53μg/kg/d) for children shorter than 2.25 SDS The mean increase in adult height in GH therapy (average duration of 4–7 yr) is 3.5–7.5 cm An increase in predicted adult height has been shown in males with ISS with aromatase Inhibitor treatment

Approximate Projections of the Growth Trajectory and Adult Height Associated with Various Treatments for Short Stature

FDA Approved Indications CRF Idiopathic short stature Prader-Willi syndrome Noonan syndrome Turner syndrome Children with Short Stature Homeobox (SHOX) gene SGA AIDS wasting syndrome Short bowel syndrome After renal transplant

Other indication may not be approved for, but not limited Anabolic therapy, except for AIDS, provided to counteract acute or chronic catabolic illness Anabolic therapy to enhance body mass or strength for professional Constitutional delay of growth and development Cystic Fibrosis Growth hormone treatment in combination with GnRH agonist (Lupron) as a treatment of precocious puberty Hypophosphatemic rickets Osteogenesis imperfecta Osteoporosis

Other indication may not be approved for, but not limited Short stature associated with growth hormone insensitivity (Laron Syndrome) Therapy in older adults with normally occurring decrease in GH, who are not congenitally GH deficient and who have no evidence of organic pituitary disease Treatment of congestive heart failure (CHF) Treatment of individuals with burns Treatment of fibromyalgia Treatment of glucocorticoid-induced growth failure Treatment of HIV lipodystrophy IUGR or Russell-Silver Syndrome Obesity