Growth & Growth disorders summary..pdf

Growth & Growth disorders Done by Sara Alzahrani Objectives: 1. Discuss the normal growth patterns from birth to adolescence. 2. Recognize the normal growth indices in childhood. 3. Describe the tanner staging for sexual maturity. 4. Discuss the factors affecting normal growth. 5. Expl...

Growth & Growth disorders Done by Sara Alzahrani Objectives: 1. Discuss the normal growth patterns from birth to adolescence. 2. Recognize the normal growth indices in childhood. 3. Describe the tanner staging for sexual maturity. 4. Discuss the factors affecting normal growth. 5. Explain the importance of monitoring the growth of a child. 6. Explain the use and interpretation of growth charts in the longitudinal evaluation of height, weight, and head circumference. 7. Recognize abnormalities of growth that warrant further evaluation and discuss their basic causes (e.g., crossing lines on a growth chart, discrepancies among height, weight and head circumference, microcephaly and macrocephaly. 8. Recognize and define short stature. 9. Recognize variants of growth in healthy children, (e.g., familial short stature and constitutional delay). 10. Present a brief list of differential diagnosis of short stature. 11. Discuss the initial evaluation of a child with short stature. Blue: Main Category Orange: Subcategory. Black: Original slides content. Red: Important information. Green: Doctor notes. Blue highlight: Info that came in previous batches questions.  Growth & Growth disorders ❖ Growth: Normal growth is the final common pathway of many factors, including endocrine, environmental, nutritional, and genetic influence. Parental concern about the psychological consequences of abnormal stature often cause a family to seek medical attention. ❖ Terminology: Chronological age: ( calendar age ) is the child real age. Bone age ( skeletal age): is the age of the bone development of the child compared with standard bone age. Short stature: when height is under the 3rd percentile. Tall stature: when height is above the 97th percentile. Underweight: when weight is under the 3rd percentile. Overweight: when weight is above 97th percentile. *For ex. 4 year old boy that ❖ Growth charts: *Usually in growth charts blue weighs 35kg with a height of = boys , pink = 135cm? so if you label it on chart you can see that he is far above The most famous and girls 97th percentile for weight and height therefore child is frequently used are overweight and of tall stature. In this case it’s obviously abnormal National Center for Health but sometimes it's confusing or Statistics (NCHS) growth sometimes it’s just touching the 97th centile. in that case you don't charts. This based on data need to interpret by one reading you should have more than two of American children. readings with 3 or 2 month differences to label as tall stature or overweight.. , for ex. If after 3m the line is going up and is higher than percentile that abnormal but if line is going up Recently , AlNuaim following the percentile that’s okay. produced one for school aged Saudi children. Weight comparison between CDC and Saudi growth chart: in the weight 50th percentile of the international standard is more than the 50th percentile of Saudi standard Height comparison between CDC and Saudi growth chart: in the height 50th percentile of the international standard is more than the 95th percentile of Saudi standard  weight: Age Expected Weight Increase Birth–2 weeks (average Lose up to 10% of birth weight, usually in the first week of life remnant fluids birth weight is 3.5 kg) Regain birth weight by 2 weeks of age from pregnancy weeks–3 months 30 g/day 3–6 months 20 g/day Double birth weight by 4–6 months of age Ex. so if birth weight was 3.5kg by 5th or 6th month weight should be 7kg, if its higher that 7kg that is abnormal you should investigate (ex. Is it overfeeding, endocrine problem, genetics) 6–12 months 10 g/dayTriple birth weight by 12 months of age 1–2 years 250 g/month or 3 kg/yearQuadruple birth weight by 2 years of age 2 years–puberty 2 kg/year Height: We don’t say height for first year we say length Age Expected Height Increase –12 months (average 25 cm/year Birth length increases by 50% at 12 months of age birth length is 50 cm) Usual length at birth is about half meter. 13–24 months 12.5 cm/year 2 years–adolescence 6.25 cm/year Birth length doubles by age 4 years Birth length triples by age 13 years Head Circumference: Age Expected Head Circumference Increase 0–2 months (average 0.5 cm/week birth head circumference is 35cm) 2–6 months 0.25 cm/week By 12 months Total increase = 12 cm since birth We usually measure the head circumference until the age of two years maximum three years if it's normal then no need to measure it.  Physiology of growth: In this chart you can see the age and height gain. you can see here at age of one year the total increment of the height gain is about 25 cm while in two years it drops to 9 cm/ year, and then it will decrease till the age of 10 to 11 years for girls instead of being like 5 to 6 cm it came up to 9 to 10 cm/year height increment. While in boys it’s around age of 13 or 14 to 15 sometimes 16 the increment or increase in height is later but stronger, so the amplitude or the height velocity here is increased to 10 to 11 cm/year but starts later. the height gain differs between boys and girl at the adolescent age but in the childhood phase it's the same and it's more in the first year and is less in the childhood phase. In the first year its 25 cm but in childhood phase it’s a range four to eight cm in normal height increment for boys and girls in childhood phase. In Adolescent the peak amplitude is higher in boys than in girls but it starts earlier in girls compared to boys and the amplitude is reach about 13 in boys and about 10 in girls Definitions neonate > first month of life Infancy > after one month until 1 year infancy ❖ Infancy: Childhood > after 1 year or infancy phase (sub-class of childhood include toddler > is school age) Adolescence > at age of puberty so 12 years and above (there is early, mid and late Adolescence) During infancy, linear growth is initially rapid. The major regulating influence on growth in infancy is nutritional status. ❖ Childhood: The childhood growth pattern starts to occur from approximately 6 months of age and predominates from the age of 3 years. Nutrition becomes less important and hormonal influences become the principal regulating mechanisms for linear growth. Growth hormone and thyroid hormone Normal thyroid status is also a requisite for normal growth. Height velocity ranges between 4 and 8cm/year. * (GH is pulsatile and it has time so night and day differs) so it is stimulated by normal sleep patterns at night, peak of GH hormone ❖ Puberty: is at 11pm until 1pm (by 11 should be in deep sleep). Differs in important ways between females and males. The adolescent growth spurt (AGS) is caused by increasing levels of androgen and estrogen production in males and females, respectively. Testosterone In Adolescence the major regulating factors are sex hormones for the boys Progesterone for the girls In females, the AGS starts approximately 2 years earlier than in males. The amplitude of peak height velocity (PHV) is higher in male, reaches approximately 10cm/year compared with 8 cm/year in females. One of the hallmarks of puberty is its variability. Genetic factors, general health, nutritional, environmental, and socioeconomic factors. Growth Hormone Physiology:  ❖ Tanner stages: Female: Male: Breast Development Testicular enlargement. Pubic hair Pubic hair Menarche Height spurt Stage 1 represents the prepubertal breast in Stage 1 describes prepubertal genitalia. which there is elevation only of the papilla. In stage 2, there is enlargement of the testes Stage 2, a “breast bud” forms below the and scrotum, with reddening and thinning of areola. the scrotum, but no enlargement of the Stage 3, there is further enlargement and penis. elevation of both breast and areola. In stage 3, the penis begins to enlarge, first Stage 4, the areola forms a secondary in length and later in diameter. The testes mound above the contour of the breast. and scrotum continue to enlarge. Stage 5 breast is fully mature, with recession In stage 4, the testes and scrotum continue of the secondary mound and a smooth to enlarge, with continued lengthening of the breast contour. penis and enlargement of the glans. Stage 5 represents genitalia of adult size and proportion. Stage 1, there may be fine vellus hair that is no different from that found over the abdominal wall. In stage 2, there is growth of sparse straight hair, primarily at the base of the penis or along the labia. In stage 3, hair increases in quantity and is darker and curlier. Stage 4 is characterized by pubic hair that resembles adult pubic hair, although the escutcheon covers a smaller area than seen in adults. stage 5, pubic hair has increased further in volume, spread onto the medial thighs, and taken on characteristic male or female configuration. ❖ Abnormality of Growth: Short stature: it is not a disease, it is a term applied to a child who is 2 SD below the mean height for children of that sex and chronological age and ideally of the same racial-ethnic group. Child is 4 years old and stature is on 50th centile but after 2 months you took measurement child is now on 25th centile and then after another 2 months he became in 10th centile. Growth failure: this isn’t short stature because child is above 3rd percentile this is called growth failure. - slow growth rate regardless of stature although they are in the normal ranges for the growth percentiles you should consider them Proportionate abnormal and investigate the cause. - Everything is short the hands, limps, extremities...etc. Disproportionate ❖ Target height: - Everything is short the hands, limps, extremities...etc. For male: - Arm span; upper/lower segment - {FH + ( MH +13)} /2 ( +/- 5) - AS = Ht from middle finger of right hand to middle finger of left hand should For female: equal height. - U/L ~ AS=Ht proportionate , if AS doesn’t equal Ht disproportionate - {(FH-13) + MH} /2 ( +/- 5) - 1.7 (birth),1.3(3y),1.0(14),0.9(adult) ❖ Abnormality of Growth: ❖ Constitutional Delay of Growth and Puberty. Normal size at birth and subsequent slowing of height velocity in the first 3 to 5 years of age. Decreased height percentile. The hallmark in diagnosis is a delayed bone age finding. Family history. Complete catch up growth. ❖ Familial Short Stature: A normal variant. height is less than 2 SDs for his age, but the child’s height is expected to still reach the calculated midparental height. low normal height velocities. normal laboratory evaluation finding, and abone age. family members may carry genetic variants responsible for short stature. Bone Age = Chronologic Age Bone Age < Chronologic Age Familial short stature Hypothyroidism Intrauterine growth retardation Hypercortisolism Turner syndrome Growth hormone deficiency Skeletal dysplasia Or Achondroplasia Chronic diseases Constitutional short stature ❖ Nonendocrine causes: Malnutrition Chronic disease Psychosocial(deprivation dwarfism) Constitutional delay Familial short stature Syndromes ❖ Down Syndrome: ❖ Turner Syndrome: ❖ Sanjad –sakati syndrome: (middle east syndrome) The normal genetic for females is This is another syndrome that is XX and in males XY in Turner common in the middle east, in our what happens? It only one X so country, in gulf countries, India and X0 means Turner syndrome. *Trisomy 21 children are short by Pakistan too because we share the nature so it’s not fair to compare or Turner syndrome is common turner same genetics. put them in the normal growth chart syndrome has some dysmorphic features as and it’s not fair to compare their you can see in the picture: Webbed neck Bat ears Distance between nipples are They have endocrine defects weight and height in a normal data higher than usual They have cardiac They have Parathyroid problems (they have growth chart that’s why we have a lot of defect) different growth charts for Down defects. sometimes in turner syndrome physically The one major feature they have is syndrome. extremely short stature for for example these they are completely normal beautiful girls *in down syndrome children you plot and mentally they are okay, the only feature two kids in picture are almost adolescent but them in the growth hormone why that she’s showing is short stature. you they look 4 or 5 years old because they are short by nature it’s should always suspect turner syndrome in they have normal mentality for 13 or 14 normal for them to be shorter than the any short female even if she’s intelligent even (common scenario is that they get mistaken normal populations if she is has no dysmorphic features, no as children when really they are 17 or 18) cardiac problems, nothing you should suspect Usually they dint live long and it runs in the Turner syndrome if she is shorter than the family. average for that country and you should investigat. ❖ Small for Gestational Age: SGA is defined as a birth weight and/or length less than2 SDs below the mean. The mechanism of growth failure is not well understood. These children may benefit from therapy with recombinant human GH (rhGH). ❖ Growth Hormone Deficiency: ❖ Isolated growth hormone deficiency ❖ Multiple pituitary hormone deficiency (IGHD): (MPHD): Genetics: Hormone deficiency - GHRH receptor gene mutation - Genetics. - GH1 gene mutation and deletion: - Pituitary hypoplasia: can occur with - GH insensitivity ( peripheral CNS anomalies Anencephaly, resistance to growth hormone). midfacial anomalies cleft palate. Acquired: Acquired: *Whenever there’s midline - Radiotherapy - Trauma defect you should suspect pituitary problem because - Infiltrative lesions; craniopharyngioma it’s located in the midline of - Irradiation the body so they have pituitary hypoplasia. - Surgery - Vascular : infarction ❖ Growth Hormone Deficiency Clinical Manifestations: Congenital Hypopituitarism: - usually of normal size and weight or 1 SD below the mean at birth. - grow at rates below the 25th percentile for age and gradually diverge from normal height percentiles. - Neonatal emergencies such as apnea, cyanosis, or severe hypoglycemia. - Micro phallus in boys provides an additional diagnostic clue. - May be accompanied by hypoadrenalism and hypothyroidism. Prolonged neonatal jaundice is common. Symptomatic hypoglycemia, usually after fasting, occurs in 10-15% of children with panhypopituitarism and those with IGHD. Intelligence is usually normal. The head is round, and the face is short and broad. The frontal bone is prominent. The nose is small, and the nasolabial folds are well developed. The eyes are somewhat bulging. The mandible and the chin are underdeveloped, and the teeth, which erupt late, are often crowded. The neck is short and the larynx is small. The voice is high-pitched and remains high after puberty. The extremities are well proportioned, with small hands and feet.. The genitals are usually small for age, and sexual maturation may be delayed or absent. Facial, axillary, and pubic hair usually is lacking, and the scalp hair is fine. ❖ Investigation: ❖ Lab: GH plasma level: absent or low level in response to stimulation, Level less than 10 microgram /L suggest GH deficiency. IGF-1 plasma level: normally 0.3 – 1.4 U/ml. Other pituitary hormones. Because it can be either isolated or multiple pituitary GH deficiency. Hypothalamic releasing hormones ❖ Radiology: radiology is also important specifically MRI and X-ray X-ray : skull, long bone CT or MRI ❖ Treatment: Treat the underlying cause hGH : 0.18 – 0.3 mg/kg/wk CS in 5-7 doses. GHRH. IGF-1. Replacement of other hormones. ❖ Tall stature: Familial Most common Obesity Puberty is advanced. Final Height is not increased. Secondary Hyperthyroidism, Excess sex steroids, Excess GH Syndromes Marfan Syndrome, Klinefelter syndrome, Beckwith syndrome, Soto Syndrome. ❖ Abnormal Head Growth: Measuring the head circumference is an important element of the pediatric physical examination, especially in the first 3 years after birth, when brain growth is maximal. Microcephaly refers to a head size that is 2 standard deviations (approximately 3rd percentile) below the mean, based on age and sex. Microcephaly is classified as either primary (genetic), which is almost always present at birth, or secondary (environmental), which may be present at birth or may develop later from a postnatal insult. Macrocephaly is defined as a head circumference greater than 2 standard deviations (approximately 97th percentile) above the mean, based on age and sex. Causes of a large head in children include hydrocephalus, an enlarged brain (megalencephaly), and space-occupying lesions.