Pediatric Diabetes Type 1 Flashcards

Question

normal variants of growth

Answer 1

short stature- often short parents. normal bone age, low-normal height velocity constitutional delay of growth and puberty- normal height for bone age but not for chronological age. Delayed bone age. Slow height velocity, pubertal growth suprt delayed but prolonged SGA with catch-up growth- most catch up by 2 years. normal bone age

Answer 2

Short people make short people However, even short people can be suffering from a pathologic disorder that makes them even shorter than one would expect from genetics. Evaluation depends on if there is abnormalities in height velocity or relative short stature. - accomplished by bone age and assessment of midparental height - If bone age is normal and patient falls within the 3rd and 97th percentile for expected height, then patient most likely has familial short stature - However, in girls Turner syndrome may have normal bone age and early systemic disease may still present with normal bone age.

Answer 3

those people you know who were “late bloomers” these patients tend to show significant delay in bone age -- Other disorders may show delayed bone age, these include nutritional deficiency, systemic disease and growth hormone deficiency In addition to bone age, these children may require basic lab work to exclude pathology -- CBC, ESR, CRP, CMP, celiac profile and IGF1 and IGfBP3 Growth should be closely monitored as children with Constitutional growth delay tend to have low normal height velocity and delayed puberty

Answer 4

This is a result of intrauterine environment. Most of these children have catch up growth. Those that don’t may benefit from Growth hormone treatment.

Answer 5

can be a result of reduced intake due to anorexia/bulimia or inadequate availability of food sources. The diagnosis can be made by history and PE for the most part the growth curves will show low weight to height ratio.

Answer 6

When treating multiple disorders, chronic steroid therapy may be required - Systemic steroids have a more profound effect - daily steroids more significant than every other day therapy - both of these more significant than topical steroid use as seen in asthma therapy. Steroids suppress growth through several different mechanisms, including interference with endogenous growth hormone secretion and action, bone formation, nitrogen retention, and collagen Cushings: Endogenous production of excess steroid, result is similar to exogenous steroid use.

Answer 7

May be associated with other symptoms, abdominal pain, GI bleeding, joint pain, oral ulcers, anal skin tags, malabsorption. These can be delineated with labs including CBC, ESR, CRP and celiac profile. Growth failure is due to chronic inflammation and poor intake or malabsorption.

Answer 8

primary causes of growth failure in children with chronic kidney disease are disturbances of growth hormone metabolism and its main mediator, insulin-like growth factor-I (IGF-I) Other factors may include metabolic acidosis, uremia, poor nutrition secondary to dietary restrictions, anorexia of chronic illness, anemia, calcium and phosphorus imbalance, renal osteodystrophy, or use of high-dose glucocorticoids if used for treatment. These patients may benefit from the use of Growth Hormone

Answer 9

Numerous reasons for this to result in growth failure including undernutrition due to anorexia, steroid use, In cases of head and neck malignancy or leukemias, irradiation of brain may result in hypothyroidism or pituitary dysfunction

Answer 10

- Cystic fibrosis is both a pulmonary and gastrointestinal disease. - Growth failure in this disorder may be caused by multiple mechanisms, including poor food intake, maldigestion or malabsorption, chronic infection, and increased energy requirements (work of breathing) Immune deficiencies also may present with pulmonary symptoms and/or growth failure.

Answer 11

Growth failure is common in children with severe heart disease of any cause. Major pathogenic factors are thought to be anorexia and increased basal energy requirements Occasionally, growth failure is the presenting feature of the heart disease.

Answer 12

Human immunodeficiency virus (HIV) infection is associated with growth failure Mechanisms include anorexia, malabsorption, diarrhea, severe infections, and failure of one or more organ systems

Answer 13

Growth failure is common in children and adolescents with many of the inborn disorders of metabolism - most common is type 1 diabetes mellitus In the past, type 1 diabetes mellitus was an important cause of short stature and attenuated growth because of caloric deficit resulting from severe glucosuria. it is now rare because of improvements in therapy. Children with type 1 diabetes have some decrease in IGF-1 production or action, and there is a negative correlation between hemoglobin A1C (as an index of metabolic control) and adult height. in children with fair to good metabolic control, growth and adult height are usually within normal ranges. Occasionally, children with diabetes and very poor glycemic control develop Mauriac syndrome, characterized by attenuated linear growth, delayed puberty, hepatomegaly, and Cushingoid features.

Answer 14

Primary endocrine disorders with effects on growth are uncommon but are important to identify because they can be treated. In general, these disorders are characterized by excessive weight for height. They should be considered in any child with markedly reduced height velocity, and especially in those with other pituitary disorders, brain tumors, septo-optic dysplasia (also known as optic nerve hypoplasia), midline brain and facial defects, neonatal hypoglycemia, history of cranial irradiation, or a familial pattern of growth hormone deficiency. Any patient with an abnormality of one pituitary hormone (central hypothyroidism, Cushing disease, or growth hormone deficiency) should be evaluated for other pituitary hormone deficiencies

Answer 15

Growth failure is a well-recognized consequence of hypothyroidism during childhood and may be the presenting feature The bone age is usually delayed; as a result, many children with hypothyroidism have a reasonably normal growth potential once the disorder is identified and treated. The evaluation should include measurements of both TSH and free thyroxine to allow detection of both primary and central hypothyroidism. - Measurement of serum TSH alone will not detect central hypothyroidism as it can be low, normal, or even slightly elevated.

Answer 16

usually from deficiency of growth hormone-releasing hormone (GHRH) - also by sellar and parasellar tumors (eg, craniopharyngioma that destroy the pituitary gland --> may be deficiencies of multiple hormones produced by the anterior pituitary rare cause : inactivating mutation of the GHRH receptor that is inherited in an autosomally recessive manner. If growth hormone deficiency is congenital and complete, the diagnosis is relatively easy to confirm. - Affected children present with severe postnatal growth failure, delayed bone age, and very low serum concentrations of growth hormone, IGF-I, and IGF-binding protein-3 (IGFBP-3, the major circulating binding protein for IGF-I). - hypoglycemia, prolonged jaundice, and micropenis, especially if gonadotropins are deficient as well. can have striking catch-up growth during growth hormone replacement therapy Children with a sellar or parasellar tumor that causes growth hormone deficiency occasionally experience rapid catch-up growth after surgical resection of the tumor without growth hormone treatment - this phenomenon is known as "growth without growth hormone" and is not fully understood.

Answer 17

the decision to undertake detailed testing should be based on strict criteria. It is therefore mandatory to obtain accurate serial measurements of height. Any evidence of central nervous system disease or other anterior pituitary hormone deficiencies should lead to measurement of IGF-I and provocative testing of growth hormone (growth hormone stimulation tests). These provocative tests are not definitive but can be a valuable diagnostic tool when combined with history, PE and bone age data and measurements of IGF-I and IGFBP-3. Congenital growth hormone insensitivity is a very rare disorder characterized by high serum growth hormone concentrations with low serum IGF-I and IGF binding-protein-3 concentrations. In its complete form, this condition is called Laron-type dwarfism (complete growth hormone insensitivity).

Answer 18

Several conditions are associated with increased secretion of gonadal steroids (estradiol in girls and testosterone in boys), which have two consequences - sexual precocity. - accelerated epiphyseal development, which causes rapid childhood growth but more rapid advancement of bone age. --> height age is advanced compared with chronologic age, but it lags behind the markedly accelerated bone age. If their growth is not halted, these tall children will be short adults because early epiphyseal closure stops linear growth prematurely.

Answer 19

Gonadotropin-dependent precocious puberty (GDPP), Gonadotropin-independent precocious puberty (GIPP)

Answer 20

also known as central (or true) precocious puberty refers to the early occurrence of normal puberty Precocious puberty historically had been defined as sexual development in girls before the age of eight years and in boys before the age of nine years - however, data for girls, particularly black girls, indicate that the age of onset of normal puberty is younger hallmarks of precocious puberty are accelerated growth and advanced bone age, plus breast development in girls and penile enlargement and sexual hair growth in boys The pattern of secretion of pituitary gonadotropins and gonadal sex steroids is normal but early.

Answer 21

also known as peripheral precocious puberty refers to sexual precocity due to adrenal or gonadal disorders (or rarely tumor production of human chorionic gonadotropin in boys) This pattern also may be seen in the setting of McCune-Albright syndrome or exposure to exogenous sex steroid The clinical manifestations are similar to those of GDPP, except that the sexual development may be that of the opposite sex, eg, androgen effects in girls with congenital adrenal hyperplasia.

Answer 22

- important consideration in girls with short stature and especially growth failure - shortness may be the presenting feature - other physical abnormalities are variably expressed -may have a square "shield" chest, webbed neck, cubitus valgus (increased carrying angle of the arm), genu valgum (inward tilting knees), shortened fourth metacarpals, and Madelung deformity of the forearm

Answer 23

most common syndromic form of obesity Obesity and hyperphagia typically develop during early childhood and can be severe Other common clinical characteristics are hypotonia and feeding problems during infancy, developmental delay, and hypogonadism Short stature is common but may not develop until late childhood when the child fails to undergo a pubertal growth spurt Treatment with growth hormone improves linear growth and body composition.

Answer 24

characterized by minor facial dysmorphism (hypertelorism, downward eye slant, and low-set ears), proportionate short stature, and heart disease, most often pulmonic stenosis and hypertrophic cardiomyopathy. Other common findings include a short webbed neck, chest deformity (pectus excavatum), cryptorchidism, intellectual disability (mental retardation), bleeding diathesis, and lymphedema a relatively common autosomal dominant disorder with an estimated incidence of one in 1000 to 2500 live births. Approximately 50 percent of children with Noonan syndrome have a mutation in the PTPN11 gene, mapped to chromosome 12q24.1, which encodes the non-receptor protein tyrosine phosphatase SHP2. Children with mutations in PTPN11 have mild growth hormone resistance

Answer 25

= Silver-Russell syndrome/ Russell-Silver dwarfism - severe intrauterine growth restriction - postnatal growth retardation - prominent forehead, triangular face, downturned corners of the mouth, and body asymmetry (hemihypertrophy). - facial features --> less obvious with age. - feeding difficulties, mild developmental delay - associated with epigenetic alterations: hypomethylation of an imprinting control region that regulates expression of the insulin-like growth factor-2 (IGF-2) gene and others on chromosome 11p15.5. - IGF-2 is known to have important effects on growth, especially during fetal development.

Answer 26

associated with short stature- caused by inherited defects in cartilage/bone development and are often associated with disproportionate short stature (with limbs disproportionately short for the trunk, or vice versa) - should be suspected in a child presenting with short stature and bone deformities, recurrent fractures, or abnormal findings on radiographs (eg, enchondromas, bowing or shortening of the long bones, vertebral defects, or rib abnormalities). - variable phenotypes: achondroplasia, hypochondroplasia, spondyloepiphysial dysplasia, and osteogenesis imperfecta. - The most common : dyschondrosteosis (due to SHOX mutations in 61.5 percent of those undergoing genetic testing) and hypochondroplasia (due to FGFR mutations in 25 percent of those subjects undergoing genetic testing). - especially prevalent among those with parents who are also very short.

Answer 27

Occasionally, children with diabetes and very poor glycemic control develop Mauriac syndrome, characterized by attenuated linear growth, delayed puberty, hepatomegaly, and Cushingoid features.