1. Growth and Puberty disorders

2. Is she short?

3. Short stature
Standing height > 2SD below the mean (< 2.5 percentile) for gender and chronological age.
Investigation of children <-2SDS identifies pathology in 14%
Investigation of children <-3SDS identifies pathology in 58%
Compare the child’s height with that of a larger population of a similar background and mid-parental target height.

5. Genetic factor is also important

6. Key points
Short stature is defined as standing height or recumbent length more than 2 standard deviations (SD) below the mean value for chronologic age.
Height (growth) velocity (cm/year) is another key auxological parameter in the assessment of a child for short stature.
Height of a child must always be defined in the context of genetic potential conferred by parental heights.
Short stature must not be confused with failure to thrive.

7. Is she short?

9. Height velocity How to measure Ht?
Ideally with calibrated stadiometer
Wall mounted
Tabletop recumbent (length)< 2 yrs old
Children who can’t stand:
Arm span
should approximate the height (>8yrs old)

10. Growth velocity Most important aspect of growth evaluation
Change in standing Ht over:
Infants: 4 mo
Children: 6mo
Normal (cm/yr)
1y: 25
2y: 12
3y: 8
Then until puberty: cm

11. Regulation of postnatal growth
• Infancy:
– Nutrition
– GH/IGF-I
• Childhood:
– Thyroxine
• Pubertal:
– Sex steroids

12. Control of GH secretion and action

13. SS Causes 1
• Non-pathogenic – Constitutional Delay of Growth and Puberty – Familial short stature – Nutritional • Intra-Uterine Growth Restriction – Syndromic e.g Silver-Russell syndrome – Non-syndromic • Systemic disorders – Cardiovascular disease e.g. congenital heart disease – Renal e.g. chronic renal failure, RTA – Respiratory e.g. cystic fibrosis, asthma – Gastrointestinal disease e.g. IBD – Neurological e.g. brain tumour – Psychosocial e.g. anorexia nervosa, child abuse

14. ETIOLOGY OF SHORT STATURE
Constitutional Delay of Growth and Development/Constitutional Delay of Growth and Adolescence

15. CDGP
• Growth velocity may be transiently decreased in the first 2 to 3 years of life (“catch down”) but normal thereafter. In some cases, a decrease in growth velocity occurs just prior to the appearance of secondary sex characteristics. • Delayed skeletal maturation (bone age) and delayed onset of puberty •Height age same as bone age •Final adult height and progression of sexual development are normal. •Often with family history of delayed growth and onset of sexual development

16. Familial Short Stature
Bone age generally not significantly delayed and often same as chronological age
Normal length and weight at birth

17. CDGP Vs Familial SS

18. Appropiate target height
CDGP Vs Familial SS
Familiar (genetic)
Constitutional
BA=CA
BA<CA
N growth veloc
Appropiate target height

19. Bone age (skeletal maturation)
Greulich and Pyle (compare epyphiseal centers in hand and wrist)

20. Greulich & Pyle Atlas

21. Nutritional
•Caloric insufficiency •Chronic inflammatory bowel disease •Malabsorption •Celiac disease

22. SS Causes 2: Endocrine causes
GH-related causes • Growth hormone (GH) deficiency: isolated or combined with other pituitary hormone Deficiencies • GH insensitivity Hypothyroidism Glucocorticoid excess • Cushing syndrome • Poorly managed congenital adrenal hyperplasia • Exogenous corticosteroid administration Pseudohypoparathyroidism

23. SS Causes 3: Chromosomal and Genetic causes
– Turner syndrome – Noonan syndrome – Down syndrome – Skeletal dysplasias –achondroplasia, hypochondroplasia, spondylo-epiphyseal dysplasia – Seckel syndrome – Prader-Willi syndrome – Miscellaneous other syndromes e.g. Rothmund- Thompson syndrome, Leri-Weill syndrome, Progeria, mucopolysaccharidoses

24. Chronic Disease Chronic renal disease Chronic liver disease
Congenital heart disease
Pulmonary (cystic fibrosis, asthma)
Poorly controlled diabetes mellitus
Anemias (sickle cell or thalassemia)

25. Chronic Use of Drugs/Medications
Glucocorticoids
High-dosage estrogens
High-dosage androgens
Methylphenidate
Dextroamphetamines

26. EVALUATION OF SHORT STATURE
Prenatal history, including maternal infection, consumption of alcohol or drugs, and smoking Pattern of growth (height and weight), including birth weight and length in relation to gestational age Family history, including parental heights and age of onset of puberty of parents and first-degree relatives Profile of patient’s pubertal development, including age of onset of breast development and menarche, testicular and penile enlargement, pubic hair, and body odor Nutrition

27. Evaluation of short stature
Evidence of systemic disease (gastrointestinal, cardiac, pulmonary, renal) Drug administration (steroids, methylphenidate) Psychosocial milieu Neurologic symptoms, especially headache, visual disturbance

28. Physical Examination
Accurate measurements of height, weight, head circumference, arm span, and upper and lower body segments Assessment of nutritional state and fat distribution Abnormal pigmentation of the skin Dysmorphic features Sexual maturity rating (Tanner staging) Neurological examination including fundoscopy and visual field tests Examination of the thyroid gland

29. Target height of the child
BOYS:
[Father’s ht (cm)+ (mother’s Ht (cm)+ 13)] 2
GIRLS:
[(Father’s ht (cm) -13) + mother’s Ht(cm)] 2
Inches: change 13 for 5’’

32. Baseline investigations for short stature
• Full blood count, ESR • Creatinine, urea, electrolytes • Calcium, phosphate, liver function tests • Ferritin, endomysial antibodies • Karyotype (in girls) • T4, TSH • Skeletal survey in dysmorphic children • Bone age X-ray (this is NOT a diagnostic investigation)

33. Further investigations
Low levels of IGF-1 and IGFBP3 are suggestive of GH deficiency
Provocative GH stimulation test (insulin, arginine, clonidine, glucagon, L-dopa) is the accepted method for confirming the diagnosis of GH deficiency.

35. FDA-Approved indications for growth hormone therapy
GHD
PWS
SGA/IUGR
Turner syndrome
Noonan syndrome
ISS
Chronic renal insufficiency
AIDS wasting
Adult GHD
SHOX deficiency

36. Side effects of GH therapy
Hypothyroidism
Edema and sodium retention
Benign intracranial hypertension
Insulin resistance
Slipped capital femoral epiphysis
Scoliosis
Gynecomastia
???Development of cancers

37. Tall stature: Causes

39. In which of the following conditions is the BA consistent with chronological age (not delayed)?
Acquired hypothyroidism
Constitutional delay
Familial short stature
Glucocorticoid excess
Psychological dwarfism

40. You are evaluating a 6yo girl for short stature
You are evaluating a 6yo girl for short stature. Her growth chart reveals a birth length at 60th percentile, and a current height at 5th percentile. Her growth velocity in the last 3 yrs has been 3cm/yr. Her weight is at the 50th percentile. On PE: wnl, and her intelligence appears normal. There are no midline defects or dysmorphic features. Her BA is 4 yrs. What is the most llikely dx?
Congenital hypothiroidism
Crohn disease
GH deficiency
Spondilodysplasia
Turner