Pediatric Endocrine, Diabetes, Metabolism

Question 1

Diabetic ketoacidosis is often precipitated by acute […] due to systemic release of catecholamines and cortisol.

Answer 1

Diabetic ketoacidosis is often precipitated by acute infection due to systemic release of catecholamines and cortisol.

these hormones are counter-regulatory to insulin and produce hyperglycemia and ketonemia with osmotic diuresis

Question 2

Diagnosis of 21-hydroxylase deficiency is supported by elevated […] levels.

Answer 2

Diagnosis of 21-hydroxylase deficiency is supported by elevated 17-hydroxyprogesterone levels.

Question 3

Fetal hyperglycemia […] the first trimester is associated with macrosomia, birth injury, and hypoglycemia. (during or after)

Answer 3

Fetal hyperglycemia after the first trimester is associated with macrosomia, birth injury, and hypoglycemia. (during or after)

hyperglycemia in the 2nd and 3rd trimesters trigger the release of insulin, which causes increased glycogen and fat storage (organomegaly) and increased growth factor production (macrosomia)

Question 4

Fetal hyperglycemia […] the first trimester is associated with malformations. (during or after)

Answer 4

Fetal hyperglycemia during the first trimester is associated with malformations. (during or after)

Question 5

How do total body stores of K+ change in a patient with diabetic ketoacidosis?

Answer 5

Decreased

secondary to osmotic diuresis; serum K+ levels are typically normal or increased

Question 6

How does serum K+ change in a patient with diabetic ketoacidosis?

Answer 6

normal/increased

due to acidemia (H+/K+ exchange) and lack of insulin driving K+ into cells; total body K+ decreases

Question 7

In gonadotropin-dependent (central) precocious puberty, LH levels are […] at baseline.

Answer 7

In gonadotropin-dependent (central) precocious puberty, LH levels are high at baseline.

due to early activation of the hypothalamic-pituitary-gonadal axis, which results in pulsatile GnRH release with elevated FSH/LH levels

Question 8

In gonadotropin-[…] precocious puberty, LH levels are high at baseline.

Answer 8

n gonadotropin-dependent (central) precocious puberty, LH levels are high at baseline.

due to early activation of the hypothalamic-pituitary-gonadal axis, which results in pulsatile GnRH release with elevated FSH/LH levels

Question 9

In gonadotropin-independent (peripheral) precocious puberty, LH levels are […] at baseline and […] increase with a GnRH agonist.

Answer 9

In gonadotropin-independent (peripheral) precocious puberty, LH levels are low at baseline and do NOT increase with a GnRH agonist.

caused by gonadal or adrenal release of excess sex hormones, resulting in low LH due to negative feedback

Question 10

In gonadotropin-[…] precocious puberty, LH levels are low at baseline and do NOT increase with a GnRH agonist.

Answer 10

In gonadotropin-independent (peripheral) precocious puberty, LH levels are low at baseline and do NOT increase with a GnRH agonist.

caused by gonadal or adrenal release of excess sex hormones, resulting in low LH due to negative feedback

Question 11

Medium chain acyl-CoA deydrogenase (MCAD) deficiency is characterized by […]-ketotic, […]-glycemia.

Answer 11

Medium chain acyl-CoA deydrogenase (MCAD) deficiency is characterized by hypo-ketotic, hypo-glycemia .

Question 12

Patients with central precocious puberty require […] prior to starting GnRH agonist therapy.

Answer 12

Patients with central precocious puberty require MRI of the brain prior to starting GnRH agonist therapy.

needed to rule out CNS lesions (e.g. hormone secreting tumors or tumors affecting the hypothalamic-pituitary-gonadal axis via mass effect)

Question 13

Patients with von Gierke disease often have thin extremities, short stature, and a “[…]-like” face.

Answer 13

Patients with von Gierke disease often have thin extremities, short stature, and a “doll-like” face.

Question 14

Patients with von Gierke disease typically have a protuberant abdomen, secondary to […].

Answer 14

Patients with von Gierke disease typically have a protuberant abdomen, secondary to hepatomegaly.

hepatomegaly occurs due to increased levels of glycogen trapped in the liver

Question 15

Precocious puberty is defined as the onset of secondary sexual characteristics in girls < 8 and boys <years of age.

Answer 15

Precocious puberty is defined as the onset of secondary sexual characteristics in girls < 8 and boys < 9 years of age .

Question 16

Refeeding syndrome is associated with […] serum levels of phosphorus, Mg2+, and K+ .

Answer 16

Refeeding syndrome is associated with decreased serum levels of phosphorus, Mg2+, and K+ .

due to intracellular uptake secondary to a surge in insulin activity

Question 17

The initial evaluation of patients with precocious puberty is to determine the patient’s […], which helps differentiate true precocious puberty from other causes of early development.

Answer 17

The initial evaluation of patients with precocious puberty is to determine the patient’s bone age, which helps differentiate true precocious puberty from other causes of early development.

e.g. premature adrenarche

Question 18

The pathogenesis of refeeding syndrome involves a rapid surge in […] activity as the body resumes anabolism.

Answer 18

The pathogenesis of refeeding syndrome involves a rapid surge in insulin activity as the body resumes anabolism.

insulin promotes cellular uptake of phosphorus, K+, and Mg2+, which can cause arrhythmias and cardiopulmonary failure due to low serum levels

Question 19

von Gierke disease is associated with […] serum lactate, triglycerides, and uric acid.

Answer 19

von Gierke disease is associated with increased serum lactate, triglycerides, and uric acid.

i.e. lactic acidosis with hyperlipidemia and hyperuricemia

Question 20

von Gierke disease is caused by a deficiency of the enzyme […].

Answer 20

von Gierke disease is caused by a deficiency of the enzyme glucose-6-phosphatase.

Question 21

von Gierke disease is characterized by severe fasting […]-glycemia.

Answer 21

von Gierke disease is characterized by severe fasting hypo-glycemia.

deficiency of glucose-6-phosphatase prevents the breakdown of glycogen

Question 22

What cause of precocious puberty is associated with unilateral café-au-lait spots and polyostotic fibrous dysplasia?

Answer 22

McCune-Albright syndrome

girls typically have premature vaginal bleeding and breast development; syndrome develops due to mutation affecting G-protein signaling

Question 23

What is the likely diagnosis in a newborn female that presents with salt wasting and clitoromegaly?

Answer 23

Congenital adrenal hyperplasia (due to 21-hydroxylase deficiency)

Question 24

What is the likely diagnosis in a newborn that presents with an enlarged tongue and jaundice with high TSH and low free T4?

Answer 24

Congenital hypothyroidism

routinely screened for in newborns; additional symptoms include lethary and umbilical hernia, though most patients are asymptomatic

Question 25

What is the likely diagnosis in a three-month-old that presents with severe hypoglycemia and lactic acidosis with a doll-like face and hepatomegaly?

Answer 25

von Gierke disease (type I glycogen storage disease, glucose-6-phosphatase deficiency)

typically presents at age 3 - 4 months with hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia

Question 26

What is the likely diagnosis in a young boy that presents with advanced bone age, coarse pubic hair, and severe cystic acne with low basal LH levels and normal testicular exam?

Answer 26

Late-onset (nonclassic) congenital adrenal hyperplasia

due to 21-hydroxylase deficiency; hirsutism is common but virilization (clitoromegaly, voice deepening) is rare (versus androgen-secreting adrenal tumors and anabolic steroid use, which typically present with hirsutism and virilization)

Question 27

What is the likely diagnosis in a young girl that presents with precocious puberty with an advanced bone age, high FSH/LH levels, and a normal MRI?

Answer 27

Idiopathic precocious puberty

GnRH therapy may be initiated to suppress FSH/LH and slow pubertal progression

Question 28

What is the likely diagnosis in an obese young girl that presents with pubic hair, acne, and normal bone age?

Answer 28

Premature adrenarche

adiposity can trigger excess insulin production, which stimulates the adrenal glands to produce sex hormones; associated with an increased risk of PCOS in adolescence

Question 29

What is the most common cause of congenital hypothyroidism worldwide?

Answer 29

Thyroid dysgenesis

e.g. aplasia, hypoplasia, ectopic gland

Question 30

What is the most common complication among infants of diabetic mothers?

Answer 30

Neonatal hypoglycemia

Question 31

What is the next step in management for a healthy 12-year-old male that presents with delayed growth spurt, delayed puberty, and delayed bone age?

Answer 31

Reassurance and follow-up

this patient has constitutional growth delay and is expected to have a normal growth spurt and reach a normal adult height; growth chart typically shows the child dropping percentiles on the growth curve between 6 months to 3 years of age before regaining normal growth velocity

Question 32

What is the next step in management for a healthy adolescent male that presents with tender, subareolar masses on both breasts?

Answer 32

Reassurance and follow-up

pubertal gynecomastia is seen in up to 67% of pubertal boys and typically resolves without treatment in a few months to years

Question 33

What is the recommended treatment for idiopathic precocious puberty?

Answer 33

Continuous GnRH agonist therapy (e.g. leuprolide)

prevents premature epiphyseal plate fusion and maximizes adult height potential

Question 34

Diabetic ketoacidosis is associated with […] respirations, which is rapid/deep breathing to compensate for metabolic acidosis.

Answer 34

Diabetic ketoacidosis is associated with Kussmaul respirations, which is rapid/deep breathing to compensate for metabolic acidosis.