Endocrine Flashcards
Signs of McCune-Albright syndrome
Peripheral precocious puberty with premature vaginal bleeding and breast development
Irregular cafe-au-lait macules
Fibrous dysplasia of bone
Why are obese children at risk of precocious development?
Adiposity –> excess insulin production –> stimulates adrenal glands to produce sex hormones
What are some causes of central precocious puberty?
Idiopathic
Hypothalamic glioma
Pituitary hamartoma
MEN2B
Medullary thyroid cancer (calcitonin)
Pheochromocytoma
Mucosal neuromas/marfanoid habitus
Caused by germline RET mutation
Beckwith-Wiedemann syndrome -signs
Overgrowth disorder to late childhood with predisposition to neoplasms
Chromosome 11p15 –> IGF2-related genes
Fetal macrosomia and hyperinsulinemia
Macroglossia
Hemihyperplasia
Medial abdominal wall defects
What testing should those with Beckwith-Wiedemann or isolated hemihyperplasia undergo?
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)
What is Gaucher disease?
Glucocerebrosidase deficiency - accumulation in macrophages of liver, spleen, bone marrow –> bone pain, cytopenia
Splenomegaly
G6P deficiency features
Glycogen buildup in ligver –> lactic acidosis
Hypoglycemia –> seizures
Hyperuricemia
Hyperlipidemia
Protuberant abdomen from hepatomegaly
Doll-like face with rounded cheeks, thin extremities, short stature
What is the most common cause of congenital hypothyroidism?
Thyroid dysgenesis
What salt wasting abnormalities do you see in congenital adrenal hyperplasia?
Hyponatremia, hyperkalemia
Seen at 1-2 weeks of life
Diagnosis and treatment for neonatal thyrotoxicosis
Danger if not treated
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)
What is the most common glycogen storage disease? Signs/symptoms in newborn?
von Gierke disease (GSD type I)
Hypoglycemia in newborns
Hepatomegaly
Severe acidosis
Excessive endogenous glucocorticoids affect GnRH how?
Suppresses its release, causing low FSH and LH
Which enzyme deficiency is in classic congenital adrenal hyperplasia?
21-hydroxylase deficiency (autosomal recessive)
Gaucher disease
Krabbe disease
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
Hurler syndrome
Mucopolysaccharidoses - lysosomal hydrolase deficiency - coarse facial features, inguinal or umbilical hernias, corneal clouding, hepatosplenomegaly
Phenylketonuria - which enzyme? Symptoms? Diagnosis? Treatment?
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
What is a complication of Wilson disease affecting the kidneys?
Fanconi syndrome - proximal tubular dysfunction - due to renal copper deposition
Glucagon can be used as rescue for what heart medications?
Beta blocker, CCB - activates adenylate cyclase, which increases intracellular calcium and improves cardiac contractility
What might be a main presenting sign of celiac disease?
Growth delay (eg weight loss, poor linear velocity)
Diarrhea only present in 2/3 of patients
How to distinguish between constitutional growth delay and familial short stature?
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
Poorly controlled maternal diabetes causes hypomagnesemia; how does this lead to jitters in neonate?
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
What is small left colon syndrome?
Infants of diabetic mothers have small risk of this transient dysmotility condition, which may cause delayed passage of meconium >48 hr from birth
Galactosemia - gene, signs
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
Urine reducing substances suggests what disorder?
Galactosemia and other errors of carbohydrate metabolism
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
