Endocrinology Flashcards
2 year old child is adopted by obese parents. What can be said about this child?
a) Child will almost certainly be obese, irrespective of biological parents.
b) Child will be thin if biological parents are thin
c) Obesity associated with higher socioeconomic status
d) Obese as infant = 90% chance of being obese adult
b) Child will be thin if biological parents are thin
Obesity RF:
- higher maternal education protective
- low SES increases risk
- risk more strongly conferred by biological than adoptive parents
A 12-year-old girl has a bone age of 11 years. All of the following might be expected EXCEPT:
a) menses
b) increased growth velocity
c) breast development
d) axillary hair
e) acne
a) menses
- stages of puberty (females): thelarche (breast bud development; 10-11 years) —> pubarche (pubic hair;
6-12 months later) —> increased growth velocity (always precedes menarche) —> menarche (2-2.5 years,
may be up to 6 years)
- stage of puberty is more accurately predicted by bone age than chronological age
Which of the following is true in puberty?
a) menstruation at Tanner stage IV
b) maximum penile growth at Tanner stage II
c) axillary hair in males at Tanner stage III
d) voice change at Tanner Stage III
e) Double breast contour in girls at Tanner stage III
a) menstruation at Tanner stage IV
Which of the following has the latest onset of pubertal changes in girls:
a. Axillary hair
b. Menarche
c. Breast development
d. Increased growth velocity
b. Menarche
Mechanism of action for insulin:
a) glycogen synthesis
b) gluconeogenesis
c) lipolysis
d) ketogenesis
e) cAMP
a) glycogen synthesis
gluconeogenesis triggered by glucagon
Picture of growth curve tracking parallel but below 5 th percentile. Most likely:
a. Russel-Silver syndrome
b. constitutional growth delay
c. familial short stature
d. CF
e. chronic renal failure
c. familial short stature
The use of growth hormone has yielded positive results in which condition:
a) familial short stature with height <2 standard deviations below the mean for age
b) constitutional short stature with height <2 standard deviations below the mean for age
c) growth hormone deficiency in girls after epiphyseal closure
d) Turner syndrome
e) Down syndrome
ANSWER: d) Turner syndrome
Indications for GH therapy:
- GH deficiency
- Turner
- idiopathic <2.25SD below mean, corrected for bone age
- SGA without catch up by 2 years
- Prader-Willi
- Noonan
- chronic renal failure before transplant
9-year-old girl with growth velocity 2 cm/yr for the past 2 years. Best diagnostic investigation:
a) TSH
b) CT head
c) AM and PM cortisol
d) nocturnal growth hormone level
ANSWER: a) TSH - hypothyroidism is the most common endocrinopathy
- lowest normal prepubertal growth is 5cm/year
Note: b) CT head - to assess for craniopharyngioma (growth pattern is a normally growing kid who growth then falls off but weight is preserved)
c) AM and PM cortisol - Cushing disease; would usually just screen with an AM cortisol
d) nocturnal growth hormone level - recommended test for GH deficiency is IGF-1 as a screen and then GH stimulation test
Features of constitutional short stature include all EXCEPT:
a) adequate nutrition
b) normal CT of sella turcica
c) growth velocity < 3 cm/yr
d) bone age delayed by 1.5-4 years
c) growth velocity < 3 cm/yr
should have normal growth velocity (parallel curve, just below it)
27 mos girl bone age 17 mos, short stature. Graphs show N BW now 3rd for ht and wt a constitutional b familial c growth hormone deficiency d malnutrition
a constitutional
Who should get GH studies?
a. Short kid with tall parents
b. All children below 3 rd percentile
c. Children with > 3SD below the mean
d. Growth of 6cm/year
c. Children with > 3SD below the mean
A 9 year old boy who used to be about average height in his class is now becoming one of the smallest. His height has dropped for the 25 th to the 10 th percentile and his weight has dropped from the 25 th to the 5 th percentile. Which of the following tests is most likely to help in making the diagnosis:
a. TSH
b. IGF-1 level
c. Anti-tissue transglutaminase antibody
c. Anti-tissue transglutaminase antibody
14 yo boy with short stature. Both parents are normal height. He is 5 th %ile for both ht and wt. He is tanner 2. What is your next test. 1. random growth hormone 2. bone age 3. cortisol level 4. testosterone level
- bone age
9 year old girl has just had the onset of her first menses. Parents are concerned about her final height. What do you do?
a. Tell them that she will grow another 5 cm
b. calculate mid-parental height
c. do a karyotype
d. do a bone age
a. Tell them that she will grow another 5 cm
In which of the following situations is growth hormone testing indicated:
a. All children below the 3 rd /5 th percentile
b. Children with growth velocity less than 6 cm/year
c. Children with a height is greater than 3 SD below the mean
c. Children with a height is greater than 3 SD below the mean
6 year old child who was growing 2 cm/year, height now <5th percentile and 50% for weight. Bone age 4 years. Diagnosis?
a. Celiac disease
b. GH deficiency
c. Turner syndrome
b. GH deficiency
c. Turner syndrome
Could be either - Turner usually starts to fall off around age 6 so if ongoing for longer may be more likely GH deficiency; if female may be more likely Turners
6 year old Short child growing along the third. Bone age is 4 years. No change in his growth velocity. Otherwise well. Gaining weight normally. What is the cause of his short stature? Mom is 160 cm dad is 180 cm calculate the mid parental height.
- cause: constitutional growth delay
2. MPH = 180+160+13/2 = 176.5cm
Child born term, bw normal, down to 3 rd percentile by 12 mos, growth chart shown with ht and wt both following 3 rd percentile. Parents heights given - both short. Diagnosis?
familial short stature
Kid who has bone age of 12. Calculate mid parental height. Mom was 157cm, dad was 180 cm.
MPH = 162 if female, 175 if male
Picture of a growth curve showing a 9 year old girl who has maintained the 25 th percentile for weight
from ages 3-9 years but who has fallen off the height curve from the 25 th percentile (from ages 3-7 years)
to below the 3 rd percentile (at 9 years). What is the most likely cause?
Hypothyroidism (most common endocrinopathy), could also be GH deficiency or Turners. Screen with TSH AND fT4
When growing normally and then height falls off while weight is preserved, think about and endocrinopathy. Constitutional delay, growth starts to slow at around 3 years
Child with micropenis. Best test to determine sex of rearing
a. Y chromosome (karyotype)
b. testosterone level
c. hypospadias
d. palpable gonads
e. size of phallus
a. Y chromosome (karyotype)
Investigations for micropenis:
- karyotype
- assess pituitary function
- assess testicular function
- MRI (hypothalamic or pituitary lesions)
Which of the following is most important in assigning sex of rearing:
a. level of testosterone
b. chromosomes
c. if testes are descended
d. gonadotropin levels
b. chromosomes
Which deficiency might be found in a female infant with clitoromegaly:
a) 21-hydroxylase
b) alpha-1-antitrypsin
c) phenylalanine hydroxylase
d) pyruvate kinase
e) cystathionine
a) 21-hydroxylase
- most common enzyme deficiency in CAH (test 17-OHP to diagnose)
A patient with XX, absence of testosterone, absence of SRY, and absence of Mullerian inhibiting hormone will have what gender phenotype?
female (SRY leads to formation of testes, MIS prevents formation of uterus, fallopian tubes and proximal vagina so if you DO NOT have it you’ll be a normal female)
A patient with XY, androgen production, SRY and anti-mullerian hormone production will have what gender phenotype?
male
Androgen insensitivity syndrome occurs due to:
a) decreased peripheral sensitivity to testosterone
b) decreased production of testosterone
c) impaired conversion of testosterone precursors
a) decreased peripheral sensitivity to testosterone
All have testes and normal or elevated testosterone and LH
A 1 week old female infant has ambiguous genitalia, vomiting and lethargy. Which of the following abnormalities are you likely to find on bloodwork:
a. Metabolic acidosis
b. Isolated hyperkalemia
c. Hypokalemia and metabolic alkalosis
d. Hyponatremia, hyperkalemia and metabolic alkalosis
a. Metabolic acidosis
CAH blood work: hyponatremia, hyperkalemia, metabolic acidosis
- deficiency in cortisol and aldosterone, while having too much androgens
A mother had amniocentesis due to advanced maternal age, with a karyotype of XY. The baby is born and is a normal female. What is the most likely etiology of this:
a. Testicular feminization (aka AIS)
b. Chimera
c. Impossible situation
d. Maternal karyotype
a. Testicular feminization (aka AIS)
A 3 week old female presents with ambiguous genitalia, vomiting and lethargy. Which of the
following tests do you recommend for diagnosis:
a. Aldosterone
b. 17-OHP
c. Cortisol
b. 17-OHP
What lab test would most likely be elevated in a child with the genitalia pictured. – picture of
ambiguous genitalia, looked like female virilization.
1. sodium
2. potassium
3. cortisol
4. aldosterone
5. glucose
- potassium
Child with perineoscrotal hypospadias , enlarged phallus, non-palpable testicles.
a. congenital adrenal hyperplasia
b. 5-alpha reductase deficiency
c. partial androgen insensitivity
d. normal male
Could probably be any of:
b. 5-alpha reductase deficiency
OMIM/Orphanet seem to associate perineoscrotal hypospadias with 5-alpha reductase specifically; need functional 5a to fuse scrotum
Newborn with ambiguous genitalia. Phallus is 2 cm, labia are fused. What is the most likely diagnosis
(1) ? What test would give you the answer (1) What acute complication is this child susceptible to?
- CAH
- 17-OHP
- salt wasting crisis
Which is true regarding lymphocytic thyroiditis:
a) intrathyroidal infiltration primarily by B cells
b) anti-thyroglobulin antibodies are commonly present
c) TSH is always elevated early in the course
d) thyroid microsomal antibodies (now called antiTPO abs) are present in the majority of children
e) TSH antibody is present
d) thyroid microsomal antibodies (now called antiTPO abs) are present in the majority of children (90%)
lymphocytic thyroiditis = AKA hashimoto or autoimmune thyroiditis; infiltration 60% T cells, 30% B cells
antithyroglobulin abs positive in less than half of cases; TSH antibody in 18%
What is the best way to monitor effectiveness of thyroid replacement in autoimmune thyroiditis?
a. T4
b. Free T4
c. T3
d. TSH
e. Antibody
d. TSH
Which is used to determine the initial dose of replacement therapy in lymphocytic thyroiditis:
a) TSH
b) T3
c) T4
d) free T4
e) thyroid antibodies
d) free T4
A 10-year-old girl has an enlarged asymptomatic thyroid. Most likely:
a) Hashimoto’s thyroiditis
b) Graves’ disease
c) congenital goiter
d) carcinoma
a) Hashimoto’s thyroiditis
Family with hypothyroidism on Synthroid bring daughter with growth 5 cm/year. Normal exam. What to do?
a) TSH, T4
b) T4, T3
c) fT4, T4
d) Nothing
d) Nothing
All are seen in hypoparathyroidism EXCEPT:
a) hyporeflexia
b) increased intracranial pressure
c) carpopedal spasm
d) candidiasis
e) nonspecific EEG changes
a) hyporeflexia hypopara leads to hypoCa = hyperreflexia - muscular pain and cramps - progressing numbness, stiffness, tingling hands and feet - carpopedal spasm, seizures - mucocutaneous candidiasis - headache, vomiting, increased ICP, papilledema - cataracts - keratoconjunctivitis
3 mo with constipation since birth, now FTT. What hormonal test would be best?
TSH (congenital hypothyroidism)
A 12 year old girl is falling of her height curve. She has also gained weight recently and is cold-intolerant. What test would you order? a) TSH b) GH c) a.m. cortisol d) TTG
a) TSH
Newborn with a TSH of 25. What do you do?
a. start thyroxine
b. repeat neonatal screen
c. bring them into the office as soon as possible
d. thyroid ultrasound
c. bring them into the office as soon as possible
need to have confirmatory testing done and be started on thyroxine, but do need to clinically assess first; if TSH >40 start thyroxine immediately after confirmatory testing is drawn (do not wait for test results)
Newborn’s TSH screen comes back as 25 ( N less than 20). What is the most likely cause of a false positive screen ( l line). What is the most likely cause of a false negative screen (1 line). List 3 investigations to work up congenital hypothyroidism.
- false positives: prematurity, screening before 24 hours of age
- false negatives: critical illness, post-transfusion
- investigations:
o TSH + free T4
o US or thyroid scan to determine location and size of thyroid tissue
o TPO antibodies
Asymptomatic goiter. What is your management.
a. See in 6 monhts
b. Thyroid ultrasound
c. TSH
c. TSH
What is best test to determine initial dose of thyroid replacement in Hashimoto’s
a) TSH
b) T4
c) fT4
a) TSH
subclinical (high TSH, normal T4)= controversial= most tx until growth and puberty and R/A so no
impact on brain or growth; if TSH high and T4 low, definitely treat