Endocrine Flashcards

1
Q

Signs of McCune-Albright syndrome

A

Peripheral precocious puberty with premature vaginal bleeding and breast development
Irregular cafe-au-lait macules
Fibrous dysplasia of bone

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2
Q

Why are obese children at risk of precocious development?

A

Adiposity –> excess insulin production –> stimulates adrenal glands to produce sex hormones

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3
Q

What are some causes of central precocious puberty?

A

Idiopathic
Hypothalamic glioma
Pituitary hamartoma

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4
Q

MEN2B

A

Medullary thyroid cancer (calcitonin)
Pheochromocytoma
Mucosal neuromas/marfanoid habitus

Caused by germline RET mutation

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5
Q

Beckwith-Wiedemann syndrome -signs

A

Overgrowth disorder to late childhood with predisposition to neoplasms
Chromosome 11p15 –> IGF2-related genes

Fetal macrosomia and hyperinsulinemia
Macroglossia
Hemihyperplasia
Medial abdominal wall defects

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6
Q

What testing should those with Beckwith-Wiedemann or isolated hemihyperplasia undergo?

A

Abdominal ultrasound (q3months from birth to age 4)
AFP (Hematoblastoma) (q3months from birth to age 4)
Renal ultrasound (Wilms tumor) (q3months from age 4-8)

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7
Q

What is Gaucher disease?

A

Glucocerebrosidase deficiency - accumulation in macrophages of liver, spleen, bone marrow –> bone pain, cytopenia
Splenomegaly

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8
Q

G6P deficiency features

A

Glycogen buildup in ligver –> lactic acidosis
Hypoglycemia –> seizures
Hyperuricemia
Hyperlipidemia
Protuberant abdomen from hepatomegaly
Doll-like face with rounded cheeks, thin extremities, short stature

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9
Q

What is the most common cause of congenital hypothyroidism?

A

Thyroid dysgenesis

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10
Q

What salt wasting abnormalities do you see in congenital adrenal hyperplasia?

A

Hyponatremia, hyperkalemia
Seen at 1-2 weeks of life

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11
Q

Diagnosis and treatment for neonatal thyrotoxicosis
Danger if not treated

A

Maternal anti-TSH receptor antibodies >=500% normal

Methimazole + beta-blocker for symptomatic patients

Prevents adverse effects on developing nervous system (growth retardation, developmental/behavioral problems)

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12
Q

What is the most common glycogen storage disease? Signs/symptoms in newborn?

A

von Gierke disease (GSD type I)

Hypoglycemia in newborns
Hepatomegaly
Severe acidosis

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13
Q

Excessive endogenous glucocorticoids affect GnRH how?

A

Suppresses its release, causing low FSH and LH

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14
Q

Which enzyme deficiency is in classic congenital adrenal hyperplasia?

A

21-hydroxylase deficiency (autosomal recessive)

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15
Q

Gaucher disease

Krabbe disease

A

Gaucher - glucocerebrosidase deficiency - lipids build up in liver, spleen, bone marrow —> anemia, thrombocytopenia, hepatosplenomegaly

Krabbe - galactocerebrosidase deficiency - cannot make myelin, leading to nerve damage —> developmental regression, hypotonia, areflexia

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16
Q

Hurler syndrome

A

Mucopolysaccharidoses - lysosomal hydrolase deficiency - coarse facial features, inguinal or umbilical hernias, corneal clouding, hepatosplenomegaly

17
Q

Phenylketonuria - which enzyme? Symptoms? Diagnosis? Treatment?

A

Phenylalanine hydroxylase deficiency - cannot metabolize phenylalanine to tyrosine –> phenylalanine accumulates in brain –> disrupt neuronal development and increase oxidative stress –> irreversible neurologic injury

Asymptomatic at birth
Microcephaly, seizures, poor feeding
Eczema, hypopigmentation, musty body odor

Diagnosis in symptomatic patient with serum amino acid analysis showing hyperphenylalaninemia

Avoiding protein-rich foods

18
Q

What is a complication of Wilson disease affecting the kidneys?

A

Fanconi syndrome - proximal tubular dysfunction - due to renal copper deposition

19
Q

Glucagon can be used as rescue for what heart medications?

A

Beta blocker, CCB - activates adenylate cyclase, which increases intracellular calcium and improves cardiac contractility

20
Q

What might be a main presenting sign of celiac disease?

A

Growth delay (eg weight loss, poor linear velocity)
Diarrhea only present in 2/3 of patients

21
Q

How to distinguish between constitutional growth delay and familial short stature?

A

Constitutional: Puberty growth spurt delayed, bone age delayed relative to chronological age, but eventually normal growth spurt and normal adult height

Familial: Bone age correlates with chronological age, one or both parents short

22
Q

Poorly controlled maternal diabetes causes hypomagnesemia; how does this lead to jitters in neonate?

A

Osmotic diuresis –> loss of magnesium –> fetus also has low magnesium –> PTH suppression and low calcium levels in neonate

Hypocalcemia –> jitters, respiratory symptoms (e.g. apnea, stridor from laryngospasm, wheezing from bronchospasm), seizures

Hypoglycemia is more commonly the cause of jitters

23
Q

What is small left colon syndrome?

A

Infants of diabetic mothers have small risk of this transient dysmotility condition, which may cause delayed passage of meconium >48 hr from birth

24
Q

Galactosemia - gene, signs

A

GALT (galactose 1-phosphate uridylyltransferase)

Hypoglycemia, accumulation of galactose –> seizures
Vomiting, jaundice, hepatomegaly
Poor feeding –> lethargy, dehydration, hypotonia
Risk for E. coli sepsis
Cataracts - from buildup of galactitol byproduct

25
Urine reducing substances suggests what disorder?
Galactosemia and other errors of carbohydrate metabolism
26
What is the difference between thyroglossal duct cyst and dermoid cyst?
They are both midline Thyroglossal duct cyst moves with swallowing or tongue protrusion; often presents after URI Dermoid cyst is not displaced with tongue protrusion; trapped epithelial debris
27