Endocrine, Diabetes & Metabolism Flashcards
Clinical Manifestation:
- Arrhythmia
- Cardiopulmonary failure
in a hospitalized anorexia nervosa patient
Refeeding syndrome
Pathogenesis:
Refeeding syndrome
sudden carbohydrate intake –> insulin activity is increased –> insulin promotes the cellular uptake of phosphorus, potassium and magnesium –> increased risk for arrhythmias and cardiopulmonary failure
What is a potential complication precipitated by providing carbohydrates to a patient with anorexia nervosa?
Refeeding syndrome is a common and potentially fatal complication seen when hospitalized anorexia nervosa patients are given nutrition without electrolyte repletion.
Diagnosis:
Electrolyte imbalance associated with initiation of nutrition in a patient with anorexia nervosa
- Hypokalemia
- Hypomagnesium
- Low phosphorus
Clinical manifestation:
- Delayed growth spurt
- Delayed puberty
- Delayed bone age
Constitutional growth delay
What is the most common cause of congenital hypothyroidism?
Thyroid dysgenesis
What is the most common clinical presentation seen in infants with congenital hypothyroidism?
Most are ASYMPTOMATIC! However, they can present with decreased activity, hoarse cry and jaundice.
Clinical Manifestation:
- decreased activity
- hoarse cry
- jaundice
- apathy
- hypotonia
- large tongue
- abdominal bloating
- umbilical hernia
in an infant
Congenital hypothyroidism
What aspect of development suffers the most injury if congenital hypothyroidism is not recognized and treated early?
Neurodevelopment
Newborns are screened for hypothyroidism, phenylketonuria and galactosemia in all states!
gonadotropin-independent vs. gonadotropin-dependent:
Peripheral precocious puberty
gonadotropin-independent
gonadotropin-independent vs. gonadotropin-dependent:
Central precocious puberty
gonadotropin-dependent
Diagnosis:
Peripheral precocious puberty
- Low baseline LH
- Low baseline FSH
- No LH stimulation after stimulation with GnRH agonist
Clinical Manifestation:
late-onset (nonclassic) congenital adrenal hyperplasia
- advanced bone age
- coarse axillary and pubic hair
- severe cystic acne
What enzyme is deficient in late-onset (nonclassic) congenital adrenal hyperplasia?
21-hydroxylase
Which populations of pediatric patients are at increased risk of precocious sexual development if obese?
- Black
2. Hispanic
Pathogenesis:
premature adrenarche
adrenal androgen release is activated early
Clinical manifestation:
Premature adrenarche
- pubic hair (pubarche)
- axillary hair
- acne
- body odor
in girls younger than 8 or boys younger than 9
True or False:
Bilateral pubertal gynecomastia is normal in adolescent boys during mid to late puberty, but unilateral, painful pubertal gynecomastia is associated with an increased risk for cancer.
False.
Pubertal gynecomastia is common in 2/3 of adolescent boys during puberty and it can be unilateral, bilateral or painful.
Treatment:
Pubertal gynecomastia
None.
Pubertal gynecomastia typically resolves in months to 2 years.
Clinical manifestation:
Central precocious puberty
- premature adrenarche (onset of axillary and pubic hair growth, odor, acne)
- premature thelarche (onset of breast development)
- advanced bone age
Diagnosis:
Central precocious puberty
- High baseline LH
- High baseline FSH
- Elevated LH after stimulation with GnRH agonist
Treatment:
Central precocious puberty
- GnRH agonist therapy to maximize height velocity
Also, all patients with central precocious puberty should undergo CT or MRI brain imaging.
Clinical manifestation:
21-hydroxylase deficiency
- Virilization of female infants
2. Salt-wasting
What cholesterol metabolite is elevated in patients with 21-hydroxylase deficiency?
17-hydroxyprogesterone
