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Endocrine > Abnormal Growth of the ped patient > Flashcards

Abnormal Growth of the ped patient Flashcards

1
Q

What are the ways to evaluate growth? (4)

A
  • History
  • Measurement of parameters
  • bone age
  • PE
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2
Q

What is auxology?

A

Comparison of growth pattern with established norms, measuring height-weight-head circumference

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3
Q

What is the characteristics of the growth pattern in children?

A

Pulsatile or seasonal (discontinuous process)

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4
Q

What are the key components of the history that are key in evaluating childhood growth?

A
  • Weight-length-head cir
  • Prenatal history
  • dietary hx
  • Developmental history
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5
Q

What are the two growth charts that are used and when?

A

WHO charts for children less than 2 yo

CDC/NCHS for 2-19 yo

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6
Q

What are the two special growth charts for children with growth diseases?

A
  • Turner syndrome

- Achondroplasia

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7
Q

What is the normal weight for height percentiles?

A

2.3rd percentile to 97.2th precentile

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8
Q

What are the normal percentile ranges for overweight, obese and underweight BMIs?

A 
Overweight = 85-95
Obese = more than 95
Underweight = less than 3rd
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9
Q

What is the most important body proportion to measure?

A

Upper segment to lower segment

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10
Q

What is the definition of failure to thrive for children?

A

Less than the 2nd percentile for age and sex, AND decreased velocity of weight gain, but not length

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11
Q

What is the most common cause of FTT?

A

Inadequate intake

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12
Q

What are the five general causes of FTT?

A
  • Inadequate intake
  • Inadequate absorption
  • Increased urinary/intestinal losses
  • Increased requirements
  • Ineffective utilization
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13
Q

What are the factors that should be assessed for with the PE for FTT children?

A
  • Malnutrition/vitamin deficiencies
  • Abuse/neglect
  • Behavioral/development
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14
Q

What are the labs that are useful for assessing FTT? (5)

A 
CBC
urinalysis
BUN/Cr
Lead
LFTs
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15
Q

What are the imaging tests that are useful for FTT?

A
  • Upper GI series
  • Ba swallow
  • Gastric emptying
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16
Q

What is the goal of treating FTT?

A

Catch up to normal growth curve in 3-6 months

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17
Q

What are the five questions to evaluate with a tall stature?

A
  1. Abnormal height
  2. Abnormal height growth
  3. Growth within family range
  4. Evidence of accelerated growth
  5. Dysmorphic features
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18
Q

When defines abnormal height?

A

More than 97.7th percentile

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19
Q

What defines an abnormally rapid growth?

A

Height for age curve deviated upwards across 2 major height percentile curves

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20
Q

What is the most common cause of abnormal height in children?

A

Incorrect measuremets

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21
Q

What determines if a child is growing faster than its parents?

A

More than 2 SDs of Mid parental height

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22
Q

How do you determine if there is accelerated growth?

A

Advanced bone age

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23
Q

What is bone age?

A

Left hand and wrist radiographs are taken, and bone age determined by epiphyseal plates

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24
Q

What determines the bone age normals?

A

Epiphyseal plate measurements compare to standards

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25
Q

How do you determine the mid parental height for boys?

A

Mom’s height = 5 in + fathers height over 2

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26
Q

How do you determine the mid parental height for girls?

A

Fathers height - 5 in + mother’s

/2

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27
Q

What is the target height based on midparental height?

A

Mid parental height + or - 2 SD

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28
Q

What is the most common cause of overgrowth in infancy? What pathology are the kids at risk of developing?

A

Maternal DM

DM themselves

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29
Q

What is Sotos syndrome? Treatment?

A

a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life.

No treatment needed.

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30
Q

What is the prognosis for Sotos syndrome?

A

Will grow fast, but reach normal levels, and have advanced bone age

MR and instability

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31
Q

What is Beckwith-Wiedemann syndrome? Prognosis?

A

Sporadic defect in chromosome 11, that causes an overactivity of IFG-2

Will grow up normally

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32
Q

What are the three major causes of tall stature in childhood and adolescence?

A
  • Familial
  • Endocrine
  • Non-Endocrine
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33
Q

What is familial tall stature?

A

Height is 2 SDs above the mean, but no pathology or dysmorphic features, and normal bone age.

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34
Q

What are the two major types of precocious puberty? In which gender are these more common?

A

Central (hypothalamic/pituitary) and peripheral

Both more common in females

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35
Q

What are the peripheral causes of precocious puberty? (3)

A
  • Congenital adrenal hyperplasia
  • Testicular or ovarian tumors
  • McCune-Albright syndrome
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36
Q

What is the relative height of children with precocious puberty (as a child/adult)?

A

Tall as a child, but short as an adult

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37
Q

What are the features of GH excess?

A
  • Obese
  • Large hands and feet
  • Coarse facial features
  • Frontal bossing
  • Projection of jaw
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38
Q

Do pts with GH excess have normal bone age?

A

yes

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39
Q

Do pts with precocious puberty have normal bone age?

A

No, advanced

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40
Q

What are the labs values that can help identify GH excess? Which is the most accurate?

A

Elevated IGF-1

IGFBP-3

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41
Q

What is the treatment for GH excess?

A

Surgery
Radiation
Meds

42
Q

What is the height range for GH excess?

A

3-4 SDs above (more than the 99.9th percentile)

43
Q

Do pts with hyperthyroidism have normal bone age?

A

No, advanced bone age

44
Q

What are the ssx of hyperthyroidism in children?

A

Same as adults, but subtle tall stature

45
Q

What is the prognosis for hyperthyroidism in children?

A

Treatment normalizes growth

46
Q

What are the defining clinical features of sex hormone deficiency/insensitivity? (3)

A

Eunuchoid proportions

  • long legs
  • reduced UL segment ratio
  • Low sitting height
47
Q

What is type 1 familial glucocorticoid deficiency?

A

AR disorders d/t mutation in ACTH receptor, that cause primary adrenal insufficiency, but high ACTH

48
Q

What are ACTH, Cortisol, and adrenal androgen levels with type 1 familial glucocorticoid deficiency?

A
  • High ACTH
  • Low cortisol
  • Excessive adrenal androgens
49
Q

What are the sequelae of type 1 familial glucocorticoid deficiency?

A

Hypoglycemia
Szs
Hyperpigmentation

50
Q

What is exogenous obesity?

A
  • Tall, early onset puberty
  • Low GH production, but normal IGF-1
  • BMI more than 95th %
51
Q

What are the GH levels with exogenous obesity?

A

Low GH but normal IGF-1 and IGFBP

52
Q

What is melanocortin-4 receptor mutation?

A

AD or AR gene that causes hyperphagia, hyperinsulinemia, and obesity

53
Q

True or false: pts with melanocortin-4 receptor mutation have preserved reproductive function

54
Q

What is Klinefelter’s syndrome?

A

-2 or more X chromosomes in males (XXY)

55
Q

What are the signs of Klinefelter’s syndrome? (4)

A
  • Long legs, short trunk
  • Small testes
  • Gynecomastia
  • MR
56
Q

What is the treatment for Klinefelter’s syndrome?

A

Testosterone

57
Q

What is the bone age in Klinefelter’s syndrome?

A

Normal or delayed

58
Q

What are the signs of XYY syndrome?

A
  • Problems with motor and language development
  • Large teeth
  • Incoordination
  • ADHD and autism
59
Q

What is the inheritance pattern of Marfan’s?

60
Q

What are the signs of Marfan’s syndrome?

A
  • Arachnodactyly
  • Joint hyperextension
  • Scoliosis, pectus excavatum
61
Q

What is the bone age line in Marfan’s?

62
Q

How do you differentiate homocystinuria from Marfan’s?

A

Lens subluxated downward, not upwards
MR present
High homocysteine levels

63
Q

What are the signs of Homocystinuria?

A
  • MR
  • High homocysteine levels
  • Risk for thromboembolic events
64
Q

What is Von Recklinghausen’s disease (NF1)?

A

AD dysregulation of GH, leading to precocious puberty, neurofibromas, and optic glyomas

65
Q

What are the pulmonary diseases that can cause short stature? (3)

A

CF
Asthma
Immunodeficiencies

66
Q

Hypertelorism + downward slanting eyes, low set ears = ?

A

Noonan syndrome

67
Q

Midface hypoplasia + frontal bossing + trident hands = ?

A

Achondroplasia

68
Q

Midline defects = ?

A

Hypothalamic pit hormone deficiencies

69
Q

Webbed neck + shield chest + stocky = ?

A

Turner syndrome

70
Q

Webbed neck + pectus excavatum?

A

Noonan syndrome

71
Q

Madelung deformity of the forearm = ? (2)

A

Turner’s syndrome or SHOX mutations

72
Q

What is the bone age like in Cushing’s?

73
Q

What are the ssx of Cushings in children?

A

Weight gain

Growth retardation

74
Q

Short stature in a girl should be suspicious for what?

A

Turner syndrome

75
Q

How do you diagnose turner’s syndrome?

A

Karyotyping

76
Q

What is the usual cause of GH deficiency?

A

Pituitary pathology (GHRH deficiency or tumors)

77
Q

What is the bone age like with GH deficiency?

78
Q

What is the bone growth with Turner’s syndrome?

79
Q

What are SHOX mutations?

A

Short stature Homeobox Gene on the X chromosomes, causing short stature and skeletal abnormalities–appear very similar to marfans

80
Q

What is the treatment for SHOX mutations?

81
Q

What are the three measures of proportionality?

A
  • Weight for height
  • BMI
  • US/LS
82
Q

How do you measure the upper to lower segments?

A

Pubic symphysis down = LS

Above = height - LS

83
Q

What happens to the US/LS ratio with Turner’s syndrome? Marfan?

A

Increased in turner’s

Decreased in Marfan’s

84
Q

What is the difference between wasting and stunting?

A 
Wasting = weight is lagging compared to length
Stunting = Child is born normally, but weight, then length drops
85
Q

What is the progression of stunting?

A

Child born normally, but then decreased weight, then length, then head circumference

86
Q

What are the GH and IGF-1 levels in patients with Sotos syndrome?

87
Q

What is the cause of sex hormone deficiency or insensitivity?

A

Deficiency in testosterone or estrogen

88
Q

What is the most common, monogenic cause of obesity?

A

Melanocortin-4-receptor mutation

89
Q

What is the treatment for the stature of 46 xyy syndrome?

90
Q

What is the definition of short stature in children?

A

Less than the 3rd percentile

91
Q

How can you tell if a child’s growth is abnormally slow?

A

Height for age curve deviated downward across 2 major high percentile curves

92
Q

How can you differentiate abnormally slow growth from naturally slow growth?

A

Midparental height

93
Q

What is the prognosis of GH deficiency if identified quickly?

A

Good– rapid catch up when treated

94
Q

What is the genetic abnormality with Turner’s syndrome?

95
Q

What is the treatment for Prader-willi syndrome?

96
Q

What is noonan syndrome? ssx (eyes, ears, neck, chest)?

A

AD mutation in RAS cascade

  • Hypertelorism, downward slanting eyes, low ears
  • Webbed neck
  • Pectus excavatum
97
Q

What is the treatment for Noonan syndrome?

98
Q

What is the cause of achondroplasia?

A

Inherited mutation in fibroblast growth factor receptor 3 (FGFR3). In normal development FGFR3 has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones

99
Q

What is Rhizomelia?

A

refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder.

100
Q

What is hypochondroplasia?

A

a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia,[2] and a head that appears large when compared with the underdeveloped portions of the body.

It is classified as short-limbed dwarfism.

101
Q

What is spondyloepiphyseal dysplasia?

A

a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen. Leads to short trunk dwarfism, but normal limbs.

102
Q

What is the mutation that underlies osteogenesis imperfecta?

A

Most cases are caused by mutations in the COL1A1 and COL1A2 genes, both of which code for type I collagen

Endocrine (32 decks)

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