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Endocrine > Peds Endocrinology - Endo > Flashcards

Peds Endocrinology - Endo Flashcards

1
Q

Growth

A

Measures

  • Length/Height
  • Weight
  • Head Circumference

Tracking

  • Growth Charts
  • CDC – birth to 36 mo, 2+, based on actual growth of US kids
  • WHO – birth to 5, based on growth of breastfed infants
  • Recommend: WHO for 0-2; CDC thereafter
  • Available in 5-95%ile, 3-97%ile, various genetic conditions, various languages
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2
Q

Short Stature

A

History

  • Heights of parents and siblings
  • Onset of menarche/puberty in parents
  • Nutritional history
  • Psychosocial history
  • PMH: birth weight, congenital infections, syndromes, chronic illnesses, medications (steroids, esp)

PE

  • Stadiometer for accurate height measurement; plot
  • Weight for height – usually normal in endocrine; reduced in malnutrition
  • Congenital abn; dysmorphic
  • GI, Cardiac, Pulm, Renal, Goiter
  • Pubertal development
  • Girls – Consider Turner syndrome (XO): Karyotype or FSH/LH after 9 or 10 yrs reveals ovarian failure

Work Up

  • Calculate growth in cm/yr over the longest period available
  • Lower limit of normal 4 cm/yr in 5-10 year olds
  • Look at growth chart – is growth parallel to normal?

Bone Age

  • Normal for chronological age: Familial or primordial short stature
  • Delayed and normal growth velocity (>4cm/yr): Delayed for age, but appropriate for height = Constitutional delay
  • Delayed and slow growth velocity (<4cm/yr): Assess thyroid (T4/TSH); Consult Ped Endocrine
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3
Q

Target (Midparental) Height

A

Mean parental height
+ 6.5 cm for boys
- 6.5 cm for girls
Most children achieve adult height within 8 cm of this

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4
Q

Familial Short Stature

A
  • Short parents and relatives
  • Usually normal birth weight and length
  • Growth velocity decelerates in 1st 2 years as they approach genetic percentile
  • Growth normal, parallel by 2-3 yrs
  • Skeletal maturation and timing of puberty consistent with chronologic age
  • Final height short, but appropriate for family
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5
Q

Constitutional Growth Delay

A

-Parents not necessarily short
-May have “late bloomer” family history
-Growth pattern similar to familial short stature
BUT
-Delayed skeletal maturation
-Delayed onset of puberty
-Growth continues beyond peers
-Ultimate height appropriate for target height

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6
Q

Growth Hormone Deficiency

A
  • Decreased growth velocity AND delayed skeletal maturation
  • May be isolated or accompany other pituitary hormone deficiencies
  • May be congenital, genetic, or acquired
  • Idiopathic most common 1:4000
  • Infants normal birth weight, sl reduced length
  • May present with hypoglycemia with central adrenal insufficiency
  • May present with micropenis with gonadotropin deficiency
  • Isolated GHD and hypopituitarism may present later infancy or early childhood

-Exam :Because GH promotes lipolysis – truncal adiposity

Lab

  • GH is VARIABLE, pulsatile – big overlap between normal and GHD
  • Serum IGF-1 (Insulin-like growth factor) gives estimate of GH secretion and action

Because tests are difficult to interpret, GH trial can clarify

  • 0.15-0.3mg/kg/week SQ divided and given 7 days/week recombinant GH
  • SEs – rare benign intracranial hypertension (optic disc), SCFE (slipped capital = knee pain)
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7
Q

Growth Hormone Uses

A
  • Growth Hormone Deficiency
  • Chronic renal failure
  • Turner Syndrome
  • Prader-Willi and Noonan’s syndromes
  • Small for Gestational Age who fail catch-up by age 4
  • Idiopathic Short stature >2.25 SDs below norm for age
  • Controversial
  • Gets an extra 5-7 cm
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8
Q

Small for Gestational Age/Intrauterine growth retardation (IUGR)

A
  • Definition: below 10th %ile for population’s birth-weight/gestational age
  • Includes both constitutionally small and intrauterine growth retardation

Due to

  • Poor maternal environment
  • Intrinsic fetal abnormalities (primordial short stature)
  • Congenital infections
  • Fetal malnutrition
  • If no intrinsic abnormalities – catch up growth in first 3 years
  • Earlier insult – less likely full catch up
  • Normal skeletal maturation
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9
Q

Turner Syndrome

A
  • Chromosomal abnormality (XO)
  • Micrognathia
  • Webbed neck
  • Low posterior hairline
  • Edema of hands and feet
  • Multiple pigmented nevi
  • Increased carrying angle
  • FOR SOME, SHORT STATURE is the only obvious manifestation
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10
Q

Psychosocial Short Stature

A
  • Growth retardation associated with emotional deprivation
  • Undernutrition probably also contributes in some

Other symptoms

  • Bizarre eating and drinking habits
  • Bowel and bladder incontinence
  • Social withdrawal
  • Delayed speech
  • Growth hormone is diminished, but replacement not helpful
  • Foster home or change in psychosocial environment is effective
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11
Q

Tall Stature

A
  • Excessive GH rare
  • Functioning pituitary adenoma
  • Leads to gigantism if epiphyses are open
  • Leads to acromegaly if epiphyses are closed

Diagnosis
-Elevated GH and IGF-1 and Failure of GH suppression with oral glucose tolerance test

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12
Q

Fetal Development of Thyroid

A
  • Fetal thyroid synthesizes thyroid hormone by 10th week of gestation
  • Fetal pituitary-thyroid axis independent of maternal because TSH does not cross the placenta
  • BUT maternal thyroid hormone does in small part
  • At birth, TSH surge within 60 minutes
  • Thyroid hormone increases as a result
  • TSH decreases to normal by a few weeks
  • Normal TSH surge can produce false-positive newborn hypothyroidism screen if collected on 1st day of life
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13
Q

Congenital Hypothyroidism

A
  • Incidence 1:3000 – 1:4000
  • Untreated – SEVERE NEUROCOGNITIVE IMPAIRMENT
  • Most case sporadic hypoplasia or aplasia of thyroid gland
  • Numerous other causes
  • Antithyroid drugs PTU and methimazole cross the placenta
  • Hyperthyroid moms on these drugs may have goiterous hypothyroid babies
  • Severe maternal iodine deficiency – both mom and baby T4 deficient, baby with irreversible brain damage
  • Even if thyroid is absent, appear normal at birth
  • Gain weight normally first few months
  • But intellectual impairment is progressing unnoticed

Symptoms, if present

  • Jaundice, associated with unconjugated hyperbilirubinemia
  • Thick tongue, Hypotonia, Large fontanelles
  • Constipation, Umbilical hernia, Hoarse cry, Dry skin
  • Newborn screen essential to early intervention
  • Confirm abnormals immediately with T4 and TSH
  • Rx: Levothyroxine 10-15 mcg/kg/day
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14
Q

Juvenile Hypothyroidism

A
  • Short stature, abnormal weight gain
  • Delayed epiphyseal development
  • Delayed closure of the fontanelles
  • Retarded dental eruption
  • Skin: Dry, thick, scaly, coarse, pale, yellow, cool, or mottled
  • Hair: Dry, coarse, or brittle; lateral thinning of the eyebrows
  • Hypotonia, slow relaxation component of DTRs (ankles)
  • Transient deafness
  • Delayed puberty
  • Occasionally pseudopuberty and galactorrhea in girls
  • Rx: Levothyroxine 75-100 mcg/m2/day
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15
Q

Conditions associated with Acquired Autoimmune Hypothyroidism

A

Low threshold for thyroid screening

  • Down
  • Turner
  • Celiac
  • Vitiligo
  • Alopecia
  • T1DM
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16
Q

Disorders of Sexual Development

A

Ambiguous Genitalia at birth: Consult

  • Ped Endocrine
  • Urology
  • Psychiatry/psychology
  • Genetics
  • Complete family history – afffected offspring, neonatal deaths, consanguinity, maternal exposures
  • Exam – dysmorphic features, hyperpigmentation of nipples/scrotum/labia,
  • Workup – Karyotype and FISH studies for SRY (Transcription factor on Y chromosome)
17
Q

Gonadal Dysgenesis

A
  • XY dysgenesis
  • Mosaicism involving the Y, XX sex reversal, true hermaphoditism
  • Streak gonads (don’t produce testosterone)
  • Normal female external and internal genitalia
  • Present as girls with delayed puberty and amenorrhea
  • 45, X/46, XY mosaicism
  • Normal male external genitalia
  • OR ambiguity due to abnormal testicular formation
18
Q

Disorders of Steroidogenesis

A
  • Missing enzymes in the biosynthesis of testosterone
  • Lack of virilization in XYs
  • Gonads and adrenals share common enzymes, so
  • Cortisol and aldosterone production also affected
  • In XX, most common is congenital adrenal hyperplasia
  • Secondary to 21-hydroxylase deficiency
  • Classic salt-losing form
  • Genital ambiguity but normal uterus and ovaries
19
Q

Precocious Puberty in Girls

A
  • Definition: Onset of secondary sexual characteristics before 8 in Caucasian, 7 in African-American and Hispanic
  • 6-8 years: Most benign, slowly-progressing
  • Age of pubertal onset advanced by obesity

Central GnRH-dependent precocious puberty

  • Activation of the normal hypothalamic GnRH pulse generator
  • Generally idiopathic
  • May be due to CNS abnormality
  • Hypothalamic hamartomas, CNS tumors, cranial irradiation, hydrocephalus, trauma
  • Breast development – pubic hair - menarche

Peripheral (GnRH-independent)

  • Caused by ovarian or adrenal tumors, ovarian cysts, CAH, exposure to exogenous estrogen
  • Estrogen excess sx – breast development, vag bleeding
  • Adrenal tumors – signs of adrenarche – pubic hair, axillary hair, acne, body odor
  • All have accelerated growth and skeletal maturation
  • Temporarily tall, but end up shorter due to rapid maturation
Work up
-Bone age – If advanced, further work up
-Estradiol – reveals excess estrogen
-Andrenarche signs – androgen levels and 17-hydroxyprogesterone
If central precocious puberty 
-MRI brain (not usually necessary in 6-8 year olds)
If peripheral
-US of ovaries and adrenal glands

Treatment

  • GnRH analogues for central
  • Variable for peripheral, dependent on cause
20
Q

Benign Variants of Precocious Puberty

A

Benign Premature Thelarche (breast development)

  • Girls younger than 2
  • Isolate, no other signs or growth concerns
  • Usually present since birth and waxes and wanes
  • Unilateral or bilateral
  • Probably from greater ovarian hormone production in infancy
  • Treatment: Reassurance

Benign Premature Adrenarche (pubic/axillary hair, acne, body odor)

  • Normal linear growth, normal bone age
  • Timing of true puberty unaffected, no treatment required BUT
  • 15% at risk for PCOS
21
Q

Delayed Puberty in Girls

A
  • No pubertal signs by 13 or no menarche by 16
  • Failure to complete pubertal development to Tanner V within 4 years of onset
  • Most common cause – constitutional growth delay
  • Timing of menarche is commensurate with BONE AGE, not chronological age
  • Anything that delays growth (GHD, hypothyroidism)
  • Work up: Start with H&P, bone age, growth records
  • Primary amenorrhea – pelvic US
22
Q

Precocious Puberty in Boys

A
  • Secondary sexual characteristics before age 9
  • Less common than in girls
  • More likely to have CNS abnormality
  • Increased linear growth rate + pubic hair
  • Testicular size
  • Enlarged – central precocity
  • Small - Gonadotropin independent, like CAH

Work up

  • Elevated testosterone levels – don’t differentiate source
  • Central – cranial MRI
  • Peripheral – CAH work up
23
Q

Delayed Puberty in Boys

A
  • No secondary sex characteristics by age 14 OR
  • More than 5 years have elapsed since onset of puberty without completion of genital growth
  • Most common cause: Constitutional growth delay
  • Hypogonadism : Primary – absence or destruction of testicular tissue, Klinefelter Syndrome (47, XXY)
  • Central – pituitary or hypothalamic insufficiency: Prader-Willi
  • Work up – H&P, growth analysis, bone age
24
Q

Congenital Adrenal Hyperplasia

A

Pathophysiology

  • Autosomal recessive mutations in the enzymes of adrenal steroidogenesis in the fetus, causes
  • Abnormal cortisol biosynthesis
  • Increased ACTH secretion, which results in
  • Adrenal hyperplasia
  • Increased adrenal hormone precursors – conveyed thru androgen pathway, resulting in
  • Increased androgen production
  • Increased pigmentation scrotum, labia majora, nipples (excessive ACTH secretion)

Symptoms and signs
Girls
-Genital virilization
-Pubic hair (before age 2), acne, deep voice
-Labial fusion, Urogenital sinus, Enlargement of the clitoris
-Signs of adrenal insufficiency (salt loss) in 2nd or 3rd week

Boys
-Salt-losing crisis in infant males
-Isosexual precosity in older males with infantile testes
Both
-Increased linear growth and advanced skeletal maturation
-tx: Replace deficient steroids with smallest dose needed to produce normal growth

Endocrine (12 decks)

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