• 20 month old girl case of wiliam syndrome presented

with vomiting and dehydration .

• Found to have hypercalcemia
• ca 3.96 mmol/l . urine ca/creat ratio 4.6 high.
• PO3:1.45 Vit d 55. PTH 3.6.
• This is the 4th episode of hypercaclemia over last 2
months .
• Patient started on IV hydration , lasix and steroid
• after 48 hr, calcium reach 2.6 mmol/l steroid stopped
• Ca level start to increase again reaching 3.5 mmol/l
so steroid resumed
• ca level maintained below 3 .
• Hypercalcemia is less common in children
than in adults.
• It is more likely to be clinically significant
in younger patients
• the aetiologies are diverse and age
specific.
• Hypercalcaemia is a serious condition that
can leads to end-organ damage.
• Normal serum levels of calcium are
maintained through the interplay of
parathyroid, renal, and skeletal factors.

• a key part of the management is to

establish the correct diagnosis promptly.
Differential
Differential diagnosis
diagnosis of of hypercalcemia
hypercalcemia in
in neonates
neonates and
and
infants
infants (up
(up to
to 22 years
years of
of age)
age)

• Iatrogenic
• Phosphate Depletion
• Premature infants on human
milk or standard formula
• Hyperparathyroidism
– Congenital parathyroid
hyperplasia
– Maternal hypoparathyroidism
• Inactivating mutations in
Ca2+-sensing receptor gene
• – Familial hypocalciuric
hypercalcemia (familial
benign hypercalcemia)
• – Neonatal severe
hyperparathyroidism
• Jansen’s metaphyseal
chondrodysplasia
• Hypervitaminosis D
• Subcutaneous fat necrosis
• Williams
syndrome/Idiopathic
infantile hypercalcemia
• Other inborn metabolic
disorders
– Blue diaper syndrome
– Lactase deficiency
– Bartter syndrome
• Hypophosphatasia
• IMAGe
• Maternal hypercalcemia
• Vitamin A intoxication
Differential diagnosis of hypercalcemia in neonates and
infants (over 2 years of age)
• Excessive calcium intake • Immobilization
• Parenteral nutrition • Malignancy associated
• Hyperparathyroidism hypercalcemia
– Primary bone tumors
♦ adenoma/carcinoma – Metastatic tumors with osteolysis
– Genetic primary – Tumors secreting PTHrP,
♦ autosomal dominant/récessive • Hepatic disease
FHH • Hyperthyroidism
♦ familial • Adrenal insufficiency
• Pheochromocytoma
♦ MEN types I and IIa
• Drugs (thiazides, lithium,
♦ Hyperparathyroidism-Jaw tumor systemic retinoid derivatives,)
– Autonomous (tertiary) • Chronic renal failure
• Hypervitaminosis D
– Excessive intake
– Granulomatous diseases: cat
scratch fever; sarcoidosis;
tuberculosis; histoplasmosis;
coccidiomycosis; leprosy; HIV
– Chronic inflammatory disorders
Nervous system Renal system
Behavioural changes Renal stones
Headache nephrocalcinosis,
Gastrointestinal Polyuria and
Hallucinations system polydipsia
Unsteady gait Paralytic ileus Renal failure
Muscle hypotonia, Abdominal Musculoskeletal
Proximal muscle cramping Bone pain
Constipation Ectopic calcification
weakness/
Anorexia Miscellaneous
myopathy Nausea Conjuctivitis
Seizures Vomiting Band keratopathy
Irritability/confusion Pancreatitis failure to thrive
Encephalopathy, Arrhythmia
Coma cardiomyopathy
• History
• Symptoms suggestive of hypercalcaemia
• Symptoms suggestive of malignancy
• Drug history, including vitamin D therapy,
• Family history of renal stone, hypercalcaemia,
parathyroidectomy, multiple endocrine neoplasia

• Examination
• Assess degree of dehydration
• Syndromic features
• Presence of ectopic/subcutaneous calcification/rash
• Generalised lymphadenopathy, organomegaly
• Bone pain, fractures
• investigations
• Bone profile, PTH, urine ca.
• Investigation of parents for abnormalities
of calcium homeostasis
• Imaging:
• Renal ultrasound scan
• Skeletal survey
• Parathyroid gland ultrasound scan
• Parathyroid gland SestaMIBI scan
• The management of hypercalcemia
depends on the severity and cause of the
elevation of serum Calcium.
• Patients with asymptomatic or mildly
symptomatic hypercalcemia (calcium
<12 mg/dL [3 mmol/L])
• no initial treatment may be necessary .
• medical efforts to reach a diagnosis
should be given the preference.
• When hypercalcemia is severe (total
serum calcium >14mg/dL) (3.5 mmol/L) .
• Or when there are symptoms .
• Discontinuation of calcium supplements
• Discontinue medications that
independently lead to hypercalcaemia,
e.g. thiazides, vitamin D, calcitriol
• Increase the weight bearing mobility of the
patient
• low calcium
formula in the
infant .
• Low calcium diet in
the older child.
Treatment of underling cause
• Filtered calcium is principally reabsorbed in the
proximal tubule and the ascending loop of Henle.
• This process is mainly passive.
• whereas active resorption of calcium occurs in the
distal loop under the influence of PTH and to a
lesser degree 1,25(OH)2D.
• Proximal reabsorption is inhibited by volume
expansion from intravenous saline infusion, which
increases delivery of sodium, calcium and water to
the loop of Henle.
• administration of a loop diuretic such as
furosemide then blocks transport at loop of henle
• Initial treatment of hypercalcemia involves
hydration to improve urinary calcium
output.
• Isotonic sodium chloride solution is used.
• MOA: to increase the glomerular filtration
rate , increasing sodium excretion
increases calcium excretion.
• Volume expansion with isotonic saline at
1.5–2.5 maintenance.
• MOA: inhibit the reabsorption of calcium,
especially in the presence of sodium,
further promoting calciuresis.
• Furosemide :
• 1–2 mg/kg/d, as divided doses every 4–6
hours.
• 1mg/kg every six hours.
• It works within hours and can lower serum
calcium levels by 1-3 mg/dL within a day.
• If hypercalcemia does not respond to
initial measures, agents that block bone-
resorption may be useful as adjuvant
therapy.

• Insome cases, hypercalcemia is due

osteoclastic bone resorption.
• agents that inhibit or destroy osteoclasts
will be effective treatments.
• MOA:
• 1- increasing renal calcium excretion .
• 2- by decreasing bone resorption via
interference with osteoclast function
• works within hours.
• lowering the serum calcium concentration
by a maximum of 1 to 2 mg/dL (0.3 to
0.5 mmol/L)
• only for 2-3 days because of tachyphylaxis
• given at doses of 2–4 IU/kg SC/IM .
• If a hypocalcemic response is noted, then the
patient is calcitonin-sensitive and the
calcitonin can be repeated every 6 to 12
hours.

• it is useful in combination with hydration for

the initial management of severe
hypercalcemia
• Can be administer along with a
bisphosphonate
• is safe and relatively nontoxic
• Adverse effects : nausea, abdominal pain,
and flushing.
• One benefit of calcitonin is that it has
analgesic properties.
• nonhydrolyzable analogs of inorganic
pyrophosphate .
• MOA: inhibit calcium release by interfering with
osteoclast-mediated bone resorption by inhibit ing
osteoclast action and inducing osteoclast
apoptosis

• Helpful when hypercalcemia is primarily driven by

the mobilization of calcium from bone as in cases:
• 1-tumor induced hypercalcemia.
• 2- immobilization.
• 3-vitamin D intoxication
• 4- primary hyperparathyroidism
• they are more potent than calcitonin and saline for
patients with moderate or severe hypercalcemia .
• Their maximum effect occurs in two to four days
• The lowering of serum calcium levels can be of
days to weeks duration

• The nitrogen-containing bisphosphonates,

including :
• alendronate, ibandronate, pamidronate,
risedronate, and zoledronic acid,
• the most potent inhibitor of bone
resorption identified to date.
• 0.025-0.05 mg/kg intravenously IV over
30-45 minutes.
• is superior to pamidronate in reversing
hypercalcemia related to malignancy
• Bisphosphonates are extremely effective
in children with moderate to severe
hypercalcaemia
• 0.5–1 mg/kg/dose of pamidronate as an IV
infusion over 4–6 h
• they decrease serum calcium in 2-4 days
with a nadir at 5-7 days.
• may last for 2–4 weeks
 Pamidronate

• Side effects:
• Fever, arthralgias, myalgia, fatigue, bone
pain.
• hypocalcemia, hypophosphatemia, and
hypomagnesemia.
• Uveitis.
• impaired renal function, nephrotic
syndrome
• osteonecrosis of the jaw*.
• Neridronic acid is an IV/intramuscular (IM)
bisphosphonate currently licensed in
Europe; some pediatric data are available,
including some in neonates.
 Decrease Intestinal Calcium
Absorption
• Glucocorticoid
• MOA:
• prevent renal calcium reabsorption
• inhibit the production and activity of 1,25(OH)2D, thus
decreasing intestinal calcium absorption

• Uses:
• vitamin D intoxication.
• in patients with chronic granulomatous diseases (eg,
sarcoidosis) .
• patients with lymphoma.
• Idopathic infantile hypercalcemia.
• Prednisone at 1–2 mg/kg/d (or 20–40
mg/m2/d), given as divided doses every 4-
12 hours
• Hydrocortisone 1mg/kg dose 12 hourly.
• dexamethasone 0.4 mg/kg/day
• onset of action is expected within 24–72
hours.
• Steroids can be combined with calcitonin
• Cinacalcet
• MOA: It changes the configuration of the
transmembranal calcium-sensing receptor on
chief cell of parathyroid gland in a manner
that makes it more sensitive to serum
calcium.
• lowers PTH levels
• Also results in concomitant decrease of
serum calcium levels by affecting renal
reabsorption.
• Uses:
• NSHPT
• chronic renal disease and secondary
hyperparathyroidism.
• can be used in life-threatening cases .
• particularly in patients with renal failure
• haemodialysis is more effective than
peritoneal dialysis at lowering calcium
levels.
• is recommended for all children with
primary hyperparathyroidism.
• Including NSPHT.
• Subtotal parathyroidectomy can be
performed, or complete parathyroidectomy
can be chosen with reimplantation of a
small amount of tissue in the forearm.
• Neonatal severe hyperparathyroidism
requires total parathyroidectomy
 Onset of Duration of
Intervention Mode of action
action action
Restoration of intravascular volume During
Isotonic saline Hours
Increases urinary calcium excretion infusion

Inhibits bone resorption via interference

4 to 6
Calcitonin with osteoclast function 48 hours
hours
Promotes urinary calcium excretion
Bisphosphona Inhibit bone resorption via interference with 24 to 72 2 to
tes osteoclast recruitment and function hours 4 weeks
Increase urinary calcium excretion via
During
Loop diuretics inhibition of calcium reabsorption in the loop Hours
therapy
of Henle
Decrease intestinal calcium absorption
Decrease 1,25-dihydroxyvitamin D Days to
Glucocorticoid 2 to 5 days
production by activated mononuclear cells weeks
s
in patients with granulomatous diseases or
lymphoma
Calcium sensing receptor agonist, reduces During
2 to 3 days
Calcimimetics PTH (parathyroid carcinoma, secondary therapy
hyperparathyroidism in CKD)
During
• A 2-year-old girl presents to the emergency
department with abdominal pain, constipation, and
vomiting without fever. The parents report that she
lost her appetite in the last few days and has been
drinking and urinating more than usual. Physical
examination reveals an elevated blood pressure of
137/89 mm Hg; there is mild diffuse tenderness of
the abdomen. Her dietary history is unremarkable
except for the fact that she does not like to drink
milk, so for several weeks she has been taking 1
mL of a liquid cholecalciferol (vitamin D3)
preparation that her parents purchased through the
Internet. When you ask to see the bottle, you note
that the concentration is 5000 IU cholecalciferol per
milliliter.
• Laboratory test results:
• Calcium = 14.7 mg/dL (3.68 mmol/L) (reference
range: 8.5-10.5 mg/dL [2.13-2.63 mmol/L])
Phosphorus = 5 mg/dL (1.6 mmol/L) (reference
range: 3.6-6.0 mg/dL [1.2-1.9 mmol/L])
Intact PTH, undetectable
25-Hydroxyvitamin D = 109 ng/mL (20-68 ng/mL)
(272.1 nmol/L [49.9-169.7 nmol/L])
1,25-Dihydroxyvitamin D = 82 pg/mL (15-75
pg/mL) (213.2 pmol/L [39.0-195.0 pmol/L])
Intravenous normal saline is initiated, and the
parents are instructed to discontinue the vitamin D
supplement.
• Which one of the following statements about vitamin D
metabolism is true?
A. Vitamin D is predominantly cleared by the kidneys, allowing for
quick correction of hypercalcemia once the drug is discontinued
B. 1,25-Dihydroxyvitamin D has a long half-life, which will result in
prolonged hypercalcemia even after the cholecalciferol is
discontinued
C. 25-Hydroxyvitamin D has a short half-life, so the effects of the
overdose will be quickly reversed once the drug is discontinued
D. Cholecalciferol has a large volume of distribution, which can result
in prolonged hypercalcemia
E. Most 25-hydroxyvitamin D will be converted to 24,25-
dihydroxyvitamin D, allowing for rapid correction of the
hypercalcemia
• A 10-year-old girl presents to her pediatrician with
severe back pain after falling while kicking a
soccer ball. Radiographs show severe osteopenia
and multiple compression fractures throughout the
thoracic spine. Upon questioning, the family
reports she has been fatigued for the past several
months and has had worsening constipation over
the past few weeks. Laboratory workup shows the
following:
• Calcium = 13.5 mg/dL (3.38 mmol/L) (reference
range, 8.8-10.8 mg/dL [2.2-2.7 mmol/L])
• Phosphorus = 3.8 mg/dL (1.2 mmol/L) (reference range,
4.0-5.5 mg/dL [1.3-1.8 mmol/L])
Spot urine calcium-to-creatinine ratio = 1.8 mg/mg
(reference range, <0.2 mg/mg)
25-Hydroxyvitamin D = 80 ng/mL (199.7 nmol/L)
(reference range, 20-80 ng/mL [49.9-199.7 nmol/L])
White blood cell count = 28,000/µL (28.0 x 109/L)
(reference range, 4300-10,800/µL [4.3-10.8 x 109/L])
Hemoglobin = 8.4 g/dL (84 g/L) (reference range, 12.0-
16.0 g/dL [120-160 g/L])
Platelet count = 105 x 103/μL (105 x 109/L) (reference
range, 150-400 x 103/μL [150-400 x 109/L])
PTH = <3 pg/mL
• Which of the following is the most likely
etiology of this patient’s hypercalcemia?
• CHOOSE ONE
• A. An inactivating mutation in the gene encoding
the calcium-sensing receptor
• B. Increased intestinal calcium absorption
• C. Destruction of bone tissue by invasion from
tumor cells
• D. Increased production of 1,25-dihydroxyvitamin
D
• E. Activation of the PTH-1 receptor
• You are asked to consult on a 1-month-old
infant in the neonatal intensive care unit with
hypercalcemia. He was delivered by
emergency cesarean section due to placental
abruption and fetal heart decelerations. He
was floppy, cyanotic, and unresponsive at
delivery and required prolonged
resuscitation. He was intubated immediately
and put on a cooling regimen at 2 hours after
birth. On his fifth day, he developed a rash on
his back (Figure). The rash resolved over
the next 2 weeks.
• He remains intubated. He has had normal laboratory
study results until yesterday, when his serum calcium
was elevated at 12.7 mg/dL (3.17 mmol/L).
• Of the following, in contrast to patients with
hypercalcemia resulting from immobilization, your
patient would MOST likely be expected to have
• A. higher parathyroid hormone set point
• B. hypercalciuria
• C. increased calcitriol synthesis
• D. increased osteoclastic activity
• E. reduced osteoblastic activity
• You are seeing a 16-year-old adolescent in your clinic
with hypercalcemia. She had been seen in the urology
clinic previously with repeated episodes of
nephrolithiasis, and was found to have a serum calcium
concentration of 10.8 mg/dL (2.7 mmol/L). She is a
student in school and when seen in your clinic her
height is 162 cm and her weight is 75 kg. She has
normal facies. Her general physical examination is also
normal.
• You obtain the following laboratory studies:
•  Phosphate 3.1 mg/dL (1.0 mmol/L) (RR 0.8-1.45
mmol/L)
•  PTH 8 pg/ml (RR 15-65 mmol/L)
•  24 hour urine calcium: 400 mg/24 hours
• Of the following genetic tests, the MOST likely to
be positive in this patient is
• A. activating PTHR1 (PTH/PTHrP receptor)
mutation
• B. compound heterozygous inactivating
CYP24A1 (24-hydroxylase) mutations
• C. dominantly inherited CDC73 (parafibromin)
mutation
• D. hemizygous 7q11.23 deletion including
general transcription factor IIi
• E. heterozygous gain of function CASR
(calcium sensing receptor) mutation
• A 9 year old girl presents with confusion, vomiting
and abdominal pain .she is tachycardia. On blood
tests, her creatinine is 1.8 mg/dl, BUN 45, and her
calcium is 14.2 mg/dl. what is th most appropriate
initial management.
• 1- furosemide 1mg/kg IV.
• 2-pamidronate 0.5-1 mg/kg.
• 3-isotonic saline bolus IV.
• 4-calcitonin SC.
• 5- dietary calcium restriction.
• Treatment with a bisphosphonate can cause
which adverse effects?
• 1- hypocalcemia and hyperphosphatemia.
• 2- hypophosphatemia and vit d defciency.
• 3- flu like symptoms and hypocalcemia.
• 4- ostonecronesis of jaw and vitamin d toxicity.
• 5-erosive esophagitis and
hypoparathyrodisim.
• A 16 year old male was found to have hypercalcemia
during an admission for appendicitis he has been
generally healthy , and has not had any fractures ,or
kidney stones. His father had two failed
parathyroidectomies. And his 26 year old sister also
had a parathyroidectomy but still has high calcium
.there are no other endocrine disorder in his family .
• His exam is unremarkable. His laboratory tests include
: ca 11mg/dl (2.8 mmol/l), phosph 2.5 mg/dl (0.83
mmol/l), ALK 122 , 25hydroxy vit d 44 ng/ml (109.8),
1,25(OH)2 vitamin d and creatinine normal and his
urine calcium is 40mg/24hr. PTH is 75 pg/ml (normal
10-65 pg/ml)
• what is the most appropriate next step
management?
• 1- referral to surgery for
parthyroidectomy..
• 2- IV bisphosphonate.
• 3- calcium restricted diet
• 4- no specific treatment.
• 5- oral bisphosphonate.
• A 26 year old woman gives birth to a full-term
baby girl. She feeds poorly, vomits and becomes
lethargic in the neonatal period . Family history is
notable for multiple family member s with mild
hypercalcemia despite attempted
parathyroidectomy including mother whose
calcium is 11mg/dl (2.8 mmol/l) .the infant
tachycardic, and dose not have dysmorphic
features. Otherwise exam is unremarkable.
• Her cbc normal ,ca is 17 mg/dl (4.3mmol/l)
phosphorus 4.2 mg/dl (1.4mmol/l) creatinine is 1.7
mg/dl and PTH is 425pg/ml .she is started on IV
fluids
• Which of the followinf best charactizes her
disorder?
• 1- parathyroidectomy can be life saving.
• 2- her mother is vitamin D toxic causing baby
hypercalcemia.
• 3- the baby is profoundly vitamin D deficient
causing secondary hyperparathyrodisim.
• 4-The baby father is carrier for inactivating
vitamin d receptor mutation
• 5- no specific treatment is required.
• In counseling about pamidronate
therapy , which one of the following is
correct?
• A-patient may experience bone pain
because pamidronate is a potent
stimulator of osteoblasts.
• B- regular dental evaluation are important
because ostonecrosis of the jaw is a
frequent complication of pamidronate
therapy in children.
• C-Future fertility may be compromised
because pamidronate has a half life of
many years.
• D- hypocalcemia can occur during
treatment.
• E- esophagitis can be avoided by
remaining upright for 30 min after the
pamidronate infusion.
• A 6 year-old , previously healthy boy was in
motor vechile crash 6 weeks ago , resulting in
a spinal cord injure and paraplegia. He has
been living in resdintal rehabilitation facility
reciving daily physical therapy . He
consumes a regular oral diet including one
can of pediatric nutrinional drink daily.his
calcium intake is estimated to be 1000mg
daily and his vitamin D intake is 600 IU daily .
Over last 2 weeks his caregiver have noticed
decreased appetite, nausea and increased
urination.
• Laboratory test result:
• Electrolyte normal
• BUN 18 mg/dl (5-18)
• Cretinine 0.5 mg/dl (0.16-0.39)
• Calcium 13.1 mg/dl (8.5-10.5 mg /dl)
• Intact PTH <3 pg/ml (16-65)
• ALK 126 (129-291)
• 25 hydroxy vitamin d 52.2 ng/ml (25-80)
• Which of the follwing best explaines this
patient’s hypercalcemia?
• A- suppresed PTH secretion inhibiting urinary
calcium excretion.
• B- increased one alph hydroxylase activity in
kideny.
• C- excessive dietry calcium and vitamin d
intake.
• D- increased bone resorption resulting in
skeletal release of calcium .
• E- ectopic PTH related protien secretion
induced by spinal cord inflammation.
• A 10 month old girl presents to the pediatrician
with poor weight gain .she was the product of full
term .uncomplicated pregnancy and delivery
except for birth weight of 2200 g (-2.8SD) no
infectious causes for intrautrine growth retardation
were idintified and she was discharged to home at
3 days of age. She was formula fed 4 ounces
every 3 hours, but she has not tolerated solid food
because of swallowing problem she takes no
medication her parents describe her as being
otherwise well with only mild delay in
developmental mile stones
• On physical she appears irritable and
weak with decreased muscle tone and
normal vital signs. Weight is 6.5 kg (-3SD),
length is 61.5 cm (-3.5SD), head
circumference is 41.5 (-3.5SD), facies are
remarkable for upslanting palpebral
fissure,epicanthal folds,shallow nasal
bridge, long philtrum ,wide mouthand
micrognathia.
• Lab:
• Ca 20 mg/dl (8-10.5)
• Phosphorus 4.5 mg/dl (3.2-6.3)
• Creatinin 0.6 mg/dl (0.2-0.4 mg/dl)
• Urinary calcium to creatinine ratio 1.9 (<0.6)
• PTH 13.4 pg/ml (16-87)
• ALK 186
• 25 hydroxy vit d 31ng/ml
• 1.25 hydroxy vit d <8 ng/ml (24-86 ng/ml)
• Cardiac evalution demonestrate peripheral
pulmonic stenosis, renal us shows bilatral
mild echogencity of medullary pyramids
chromosomal microarray reveals 1.4-Mb
contiguous gene deletIon in 7 q11.23
• At age of 7 years this child will most likely
exhibit which of the following?
• A-hypercalcemia.
• B- immune deficency.
• C- thrombocytopenia.
• D-Renal insufficency
• E- normocalcemia.
• Which of the folowing is true about
bisphosphonates?
• A-in excess, they paradoxically decrease
bone density.
• B-they are administered by deep IM injection.
• C- they act by incorporating into bone marrow
precurser cells, thus prolonging their life
span.
• D-they augment bone mineralization by
increasing osteoblastogenesis.
• E- they are retained in bone for many years.
• Which of the following describe the william-beuren
syndrome of infantile hypercalcemia?
• A- chactrized by mitral valve prolapse , extremely
fine facial features and overgrowth.
• B- it is realted to loss of function of BAZ1B.
• C- it is the result of increased functional activity of
WINAC (WSTF)
• D- it is dependent on increased activity of hepatic
25 hydroxylase.
• E- it is transmitted as a sex linked recessive trait.
• A 13 year old girl presents with fatigue, cough
dyspnea and ployurea. She is tachycardic and her
blood pressure is 87/46 . She has joint swelling
and wheezes on exam. She has lymphadenopathy
on chest radiographs. Her laboratory test result
are:
• Total calcium 13.4 mg/dl (3.4mmol/l)
• Phosphorus 4.2 mg/dl (1.4 mmol/l)
• Creatinine 2.1 mg/dl (168 ummol/l)
• PTH <5pg/ml (<0.53 pmol/l)
• 1,25 dihydroxy vitamin D 112pg/ml (291 pmol/l)
• What is true about appropriate intial management
of hypercalcemia in this patient?
• A- diuretics alone will be effective for mangement.
• B- treatment with an IV bisphosphonate can
acutely worsen renal function.
• C- urgent parathyroidectomy is required and can
be life saving
• D- an IV bisphosphonate will begin to lower
serum calcium faster than calcitionin
• E- isotonic saline should be given only after
bisphosphonate have safely lowered the calcium.
• You are evaluting a patient with
hypercalcemia associated with an increased
PTH level. Before referring your patient to a
parathyroid surgeon , you remember from
studies for the board examination that you
need to exclude FHH as acause of benign
nonoeprative hyperparathyrodism . You also
remember that the cutoff for diagnosis of
FHH is calcium creatinine clearence ratio of
less than 1%.as happen most of the time in
real life and not on exam , the results come
back with CaCl/CrCl ratio of exactly 1%
• What is the quickest ,easiest , and least
expensive way to make the diagnosis of
FHH?
• A- check serum calcium of patients parents.
• B- send DNA for mutation analysis of CaSR
gene.
• C- assess whether calcium loading is able to
suppress PTH.
• D- measure urinary cyclic AMP in response
to PTH infusion.
• At the insistence of her mother, a 12 year old
girl is referred to you by her primary care
physician following a pathologic fracture of
her left proximal femur. The mother has done
extensive research in internet and insist that
you do gene testing to diagnose her
daughters disorder her physical examination
is normal except for a large ragged bordered
hyperpigmentated macular lesion extending
from her midline toward her right shoulder.
• You decide to biopsy an area of affected
tissue to test for mutation in which of the
following gene?
• A- CASR.
• B-GNAS
• C- neurofibromin
• D- menin
 MCQ 17

• A 14-year-old, previously healthy white girl

presents with clinical and biochemical features
of pancreatitis and nephrolithiasis at an outside
hospital.
• She has a history of a 25-lb weight loss and has
been trying to lose weight.
• serum calcium level of 15.0 mg/dL (3.75 mmol/L),
• serum phosphorous of 2.2 mg/dL (0.71 mmol/L),
• serum magnesium of 1.3 mg/dL.
• She has normal blood urea nitrogen of 14
mg/dL(5 mmol/L)
• serum creatinine of 0.6 mg/dL (53.04 μmol/L).
• Her serum 25-hydroxyvitamin D concentration is
9 ng/mL (22 nmol/L).
• Her 125-hydroxyvitamin D concentration is 118
pg/mL (307 pmol/L).
• Of the following, the MOST likely reason
for her hypophosphatemia is
• A. inadequate dietary phosphate
• B. primary hyperparathyroidism
• C. refeeding syndrome
• D. tertiary hyperparathyroidism
• E. vitamin D deficiency
 MCQ 18

• A 3-day-old newborn presents with

lethargy, poor suck, and vomiting. The
mother’s pregnancy was uneventful and
there was no history of maternal illness.
The newborn’s physical examination is
unremarkable.
• Laboratory evaluation showed the
following:
•  PTH, 80 pg/mL
•  Total calcium, 14.0 mg/dL
•  Ionized calcium, 7.1 mg/dL
•  Phosphorus, 1.3 mg/dL
•  25 hydroxyvitamin D, 30 ng/dL
•  1,25-dihydroxyvitamin D, 72 ng/mL
•  Urine calcium/creatinine ratio, 0.3
• Of the following, the MOST likely cause of this
newborn’s hypercalcemia is
• A. heterozygous inactivating mutations of
the calcium-sensing receptor
• B. homozygous activating mutations of the
calcium-sensing receptor
• C. homozygous inactivating mutations of the
calcium-sensing receptor
• D. maternal hyperparathyroidism
• E. maternal hypocalcemia
 MCQ 19
• 3 year old boy presented with loss of
mandibular incsior without trauma . Refer
to you by dentist when he notice mild root
resorption.
• On eaxm patient having widened wrists
and ankle. Lab showed:
• Bicarb 27 ,albumin 3.9 g/dl , calcium 10.2
mg/dl ,phosphorus 6.2 mg/dl , Alkaline
phosphatase :65 U/L PTH 25 pg/ml
• Vitamin d 25 hydroxy 30 ng/ml
• Clinical finding in this patient most likely
due to :
• A- increased bone resorption.
• B- increased inorganic pyrophosphate.
• C- increased phosphate .
• D- blount disease.
• E. increased FGF23