endocrinology
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Endocrinology. Calcium. - PowerPoint PPT PresentationTRANSCRIPT
EndocrinologyEndocrinology
CalciumCalcium
An otherwise healthy 6-week infant presents with a An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. The generalized seizure. She is exclusively breast fed. The child is somewhat sleepy with a non focal examination.child is somewhat sleepy with a non focal examination.Lab dataLab data::Glucose Glucose 88 mg/dL 88 mg/dLSodium Sodium 141 mEq/L141 mEq/LCalcium Calcium 5.1 mg/dL5.1 mg/dLPhosphorus Phosphorus 9.1 mg/dL9.1 mg/dLMagnesiumMagnesium 2.1 mg/dL2.1 mg/dL
The most likely diagnosis is:The most likely diagnosis is:
a)a) Pseudohypoparathyroidism Pseudohypoparathyroidism
b)b) HypoparathyroidismHypoparathyroidism
c)c) Vitamin D deficiencyVitamin D deficiency
d)d) Albright’s hereditary osteodystrophyAlbright’s hereditary osteodystrophy
Actions of PTHActions of PTH
1.1.
2.2.
CaCa POPO44
NET EFFECTNET EFFECT
25 OH Vit D25 OH Vit D
1,25 (OH)1,25 (OH)22 Vit D Vit D
1 hydroxylase
3.3.
Gut
An otherwise healthy 6-week infant presents with a An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. The generalized seizure. She is exclusively breast fed. The child is somewhat sleepy with a non focal examination.child is somewhat sleepy with a non focal examination.Lab dataLab data::Glucose Glucose 88 mg/dL 88 mg/dLSodium Sodium 141 mEq/L141 mEq/LCalcium Calcium 5.1 mg/dL5.1 mg/dLPhosphorus Phosphorus 9.1 mg/dL9.1 mg/dLMagnesiumMagnesium 2.1 mg/dL2.1 mg/dL
The most likely diagnosis is:The most likely diagnosis is:
a)a) Pseudohypoparathyroidism Pseudohypoparathyroidism
b)b) HypoparathyroidismHypoparathyroidism
c)c) Vitamin D deficiencyVitamin D deficiency
d)d) Albright’s hereditary osteodystrophyAlbright’s hereditary osteodystrophy
An otherwise healthy 6-week infant presents with a An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. The generalized seizure. She is exclusively breast fed. The child is somewhat sleepy with a non focal child is somewhat sleepy with a non focal examination.examination.Lab dataLab data::Glucose Glucose 88 mg/dL 88 mg/dLSodium Sodium 141 mEq/L141 mEq/LCalcium Calcium 5.1 mg/dL5.1 mg/dLPhosphorus Phosphorus 9.1 mg/dL9.1 mg/dLMagnesiumMagnesium 2.1 mg/dL2.1 mg/dL
What is an important diagnostic consideration What is an important diagnostic consideration (i.e. what else is the child at risk for)(i.e. what else is the child at risk for)
DiGeorge syndrome – thymic aplasia, congenital heart DiGeorge syndrome – thymic aplasia, congenital heart
disease, immune deficiency disease, immune deficiency
Biochemical changes in ricketsBiochemical changes in rickets
Ca PO4 Bone Urine
NMinimalchanges
N RicketsAminoaciduriaPhosphaturia
Stage 1
Stage 2
Initial
Ca:PO4:Alk Phos:
9.7 3.12514
2 ½ weeks
9.8 3.52185
4 months
10.5 6.5 518
A. Normal Normal Low
B. Low Low Low
C. Low Increased Increased
D. Low Normal Normal
E. Normal Low Increased
CALCIUM PHOS ALK PHOS
Which is consistent with vitamin D deficiency rickets?
Choose correct answerChoose correct answer
A.A. Vitamin D deficiency ricketsVitamin D deficiency rickets
B.B. Renal osteodystrophy (renal rickets)Renal osteodystrophy (renal rickets)
C.C. BothBoth
D.D. NeitherNeither
1. Increased phosphate level
2. Increased PTH level
3. Increased creatinine level
B
C
B
THYROIDTHYROID
A 15 day infant has an abnormal newborn thyroid screen result: The baby was born on 5/27/07. His newborn screening tests, performed on 5/29/07 revealed:
Normal rangeTSH 37 IU/ml < 20T4 10.1 g/dl 9-19
This child:a) Has congenital hypothyroidism and should be referred
to a congenital hypothyroidism treatment centerb) Will likely develop mental retardation if untreated c) Likely does not have any thyroid abnormalityd) Has an altered hypothalamic set-point for T4e) Should be started on thyroxine replacement
immediately
Venipuncture: (1/25/01) Normal rangeTSH 488 IU/ml (0.3-5.5)T4 1.2 g/dl (4.5-12.5)
You are contacted by your state Neonatal Thyroid Screening Program. Baby X was born on 1/4/01. His newborn screening tests, performed on 1/6/01 revealed:
Initial filter paper Normal rangeTSH >200 IU/ml < 20T4 2.1 g/dl 9-19
Congenital hypothyroidismCongenital hypothyroidism
Thyroid dysgenesis/agenesisThyroid dysgenesis/agenesis Prevalence 1 in 4,000 [Whites 1 in 2,000; Blacks Prevalence 1 in 4,000 [Whites 1 in 2,000; Blacks
1 in 32,000]1 in 32,000] 2:1 female to male ratio2:1 female to male ratio Clinical features include:Clinical features include:
hypotonia, enlarged posterior fontanelle, hypotonia, enlarged posterior fontanelle, umbilical hernia, indirect hyperbilirubinemiaumbilical hernia, indirect hyperbilirubinemia
Laboratory findings:Laboratory findings: Very high TSH and low T4 Very high TSH and low T4 Therapy: Thyroxine – keep TSH in normal rangeTherapy: Thyroxine – keep TSH in normal range
6 month female with congenital hypothyroidism
..following 4 months therapy
A baby who was born with gastroschisis has an A baby who was born with gastroschisis has an abnormal newborn thyroid screen at 3 days which abnormal newborn thyroid screen at 3 days which revealed a low T4 and normal TSH. revealed a low T4 and normal TSH.
Repeat venipuncture showed:Repeat venipuncture showed:T4 T4 2.1 2.1 μμg/dL g/dL (4.5-12.5) (4.5-12.5) TSH TSH 2.3 2.3 μμIU/mL IU/mL (0.3-5.0)(0.3-5.0)
The most likely diagnosis is:The most likely diagnosis is:
a)a) Hypothyroidism due to dysgenesis of the thyroid glandHypothyroidism due to dysgenesis of the thyroid gland
b)b) Central hypothyroidismCentral hypothyroidism
c)c) TBG deficiencyTBG deficiency
d)d) Hypothyroidism from excess iodine exposure Hypothyroidism from excess iodine exposure
e)e) Normal thyroid function (as the TSH is normal)Normal thyroid function (as the TSH is normal)
Central hypothyroidism - rareCentral hypothyroidism - rare
TBG deficiencyTBG deficiency1:28001:2800
vs.vs.
Thyroxine (T4)Thyroxine (T4)
Major product secreted by the thyroid Major product secreted by the thyroid Circulates boundCirculates bound to thyroid binding proteins to thyroid binding proteins
- thyroid binding globulin (TBG)- thyroid binding globulin (TBG) Only a Only a tiny fraction (< 0.1%) is freetiny fraction (< 0.1%) is free and diffuses into tissues and diffuses into tissues When we When we measuremeasure T4, we measure the T4 that is T4, we measure the T4 that is bound to bound to
proteinprotein The level of The level of T4T4 is therefore largely is therefore largely dependentdependent on the on the
amount of TBGamount of TBG Changes in T4Changes in T4 may reflect may reflect TBG variationTBG variation rather than rather than
underlying pathologyunderlying pathology
TBG TBG deficiencydeficiency
Central Central hypothyroidismhypothyroidism
Free T4 Low Normal
TBG level Normal Low
T3RU Low High
17 year old female who complains of easy fatigability. Her mother developed Graves’ disease at the same age.
Thyroid function: Normal rangeTSH: 3.7 IU/ml 0.3-5.5T4: 13.4 g/dl 4.5-12
17 year old female who complains of easy fatigability. Her mother developed Graves’ disease at the same age.
Thyroid function: Normal rangeTSH: 3.7 IU/ml 0.3-5.5T4: 13.4 g/dl 4.5-12 Which of the following medication could explain the thyroid
function abnormality
a) INHb) Ortho Tri-Cylenc) Retinoid acidd) Ciprofloxacine) Doxycycline
Conditions that cause alterations in TBGConditions that cause alterations in TBG
Increased TBGIncreased TBG Decreased TBGDecreased TBGInfancy Familial deficiencyEstrogen Androgenic steroid treatment - OC Pill Glucocorticoids (large dose) - pregnancy Nephrotic syndromeFamilial excess AcromegalyHepatitisTamoxifen treatment
A 12-yr female has diffuse enlargement of the A 12-yr female has diffuse enlargement of the thyroid. She is asymptomatic. Her disorder is thyroid. She is asymptomatic. Her disorder is most likely associated with which of the following most likely associated with which of the following pathological processespathological processes
a) Infectiousb) Inflammatoryc) Autoimmuned) Toxic (drug)e) Neoplastic
Normal thyroid
Hashimoto thyroiditis
DCDC 16 year 7 month Growth failure x 1 1/2 years
LabsLabs:
TSH: 1008 µIU/ ml (0.3-5.0)T4: <1.0 µg/dl (4-12)
Antithyro Ab. 232 U/ml (0-1)A-perox Ab. 592 IU/ml (<0.3)
Prolactin: 29 ng/ml (2-18)
Cholesterol: 406 mg/dl (100-170)
DCDC
Start of thyroxineStart of thyroxine
BackgroundBackground: Autoimmune destruction of the thyroid Family history in 30-40% Lymphocytic infiltration
ClinicalClinical: Growth failure, constipation, goiter, dry skin, weight gain, slow recoil of DTR
LaboratoryLaboratory: High TSH Anti-thyroglobulin and anti-peroxidase antibodies
TherapyTherapy: Thyroxine
Hashimoto thyroiditisHashimoto thyroiditis
15 year old female with a history of easy fatigability. Found to have an elevated pulse rate at recent MD visit
Thyroid function: Normal rangeTSH < 0.1 IU/ml 0.3-5.5T4 14.8 g/dl 4.5-12T3 580 ng/dl 90-190
Restlessness, poor attention spanEye changes
Goiter
Tachycardia, wide pulse pressure
Increased GFR- polyuria
DiarrheaMenstrual abnormalities
Myopathy
Antithyroid medication (Methimazole or Propylthiouracil [PTU]) Pros : 25% remission rate every 2 years
Cons: Drug induced side effects - skin rashes, agranulocytosis, lupus-like reaction
Radioactive iodine (131I)Pros : Easy. Essentially free of side effectsCons: Long term hypothyroidism
Surgery
Blockers if markedly hyperthyroid
Therapy for Graves diseaseTherapy for Graves disease::
Sexual differentiationSexual differentiation
Ambiguous genitalia is found in a newborn.Ambiguous genitalia is found in a newborn. The baby is noted to be hyperpigmented. The baby is noted to be hyperpigmented. Ultrasound demonstrates the presence of a Ultrasound demonstrates the presence of a uterus. The most useful test to aid in the uterus. The most useful test to aid in the diagnosis of this medical condition isdiagnosis of this medical condition is::
a)a) TestosteroneTestosterone
b)b) 17-hydroxyprogesterone17-hydroxyprogesterone
c)c) Serum sodium and potassiumSerum sodium and potassium
d)d) DHEASDHEAS
e)e) DHEAS/androstenedione ratioDHEAS/androstenedione ratio
Cholesterol
Pregnenolone
Progesterone
DOCA
Corticosterone
ALDOSTERONE
17 (OH) pregnenolone DHEA
17 (OH) progesterone Androstenedione
Compound S
CORTISOL
TESTOSTERONE
Desmolase
3--HSD 3--HSD 3--HSD
17-OH
17-OH
21-OH 21-OH
11-OH 11-OH
If she has salt wasting congenital adrenal If she has salt wasting congenital adrenal hyperplasia, which abnormalities are likely to hyperplasia, which abnormalities are likely to develop. True or False for eachdevelop. True or False for each
a)a) Increased serum potassiumIncreased serum potassium
b)b) Decreased serum sodiumDecreased serum sodium
c)c) Decreased bicarbonateDecreased bicarbonate
d)d) Decreased plasma cortisolDecreased plasma cortisol
e)e) Increased plasma renin activityIncreased plasma renin activity
T
T
T
T
T
A 1-year male infant has non palpable testes. A 1-year male infant has non palpable testes. Of the following, the most appropriate next step Of the following, the most appropriate next step would bewould be
a) Schedule a re-examination in 18 monthsb) Refer the patient for an exploratory laparotomyc) Begin therapy with LHRHd) Measure the plasma testosterone after
stimulation with HCGe) Begin therapy with testosterone enanthate, 50
mg IM monthly for 3 months.
History
9 day old male infant
1 day history of decrease feeding, vomiting and lethargy.
Examination
Ill appearing infant with poor respiratory effort
Vital signs: T 99 F HR 100/min BP 61/40 RR 24/min
Resp: Subcostal retractions but clear to auscultation
Cardiac: Regular rate and rhythm. Normal S1 and S2
Abdomen: Soft, non distended. Non tender. No HSM
Neuro: Lethargic. No focal deficit
Genitalia: Normal male. Bilateral descended testes
Laboratory data:Laboratory data:
WBC 16.7
Hb 16.4
Hct 49
Plt 537 K
Na 121
K 9.3
Cl 83
CO2 6.7
Glucose 163
BUN/Creat 33/0.2CSF:
Chemistry: Protein 74 Glucose 82
Microscopy: WBC 6 RBC 100
Emergency therapyEmergency therapy
Fluid resuscitation:Fluid resuscitation:20 ml/kg Normal saline20 ml/kg Normal saline
GlucocorticoidGlucocorticoid2 mg/kg Solucortef IV2 mg/kg Solucortef IV
Monitor EKGMonitor EKG
Modes of presentationModes of presentation
ClassicalClassical Simple virilizingSimple virilizing Virilizing with salt lossVirilizing with salt loss
““Non classical” / Late onsetNon classical” / Late onset
Therapy and evaluation of therapyTherapy and evaluation of therapy
Glucocorticoid (Hydrocortisone)Glucocorticoid (Hydrocortisone) Monitor growth, 17-OHP, urinary pregnanetriolMonitor growth, 17-OHP, urinary pregnanetriol
Fluorocortisol (Florinef 0.1 – 0.45 mg/day)Fluorocortisol (Florinef 0.1 – 0.45 mg/day) Blood pressure, plasma renin activity (PRA)Blood pressure, plasma renin activity (PRA)
Supplemental saltSupplemental salt Until introduction of infant foodUntil introduction of infant food
History
15 year female presents with primary amenorrhea
Breast development began at 10 years
Examination
Height: 5 ft 7 in Weight 130 lb
Tanner 5 breast development
Scant pubic hair
What is your diagnosis?
XY GenotypeXY Genotype
TestosteroneTestosterone
EstradiolEstradiol
Androgen
Receptor
Estrogen
Receptor
Arom
atase
Complete androgen insensitivityComplete androgen insensitivity
History
15 year female presents with primary amenorrhea
Breast development began at 10 years
Examination
Height: 5 ft 7 in Weight 130 lb
Tanner 5 breast development
Scant pubic hair
Which of the following clinical features is the most likely to give you the correct diagnosis
a) Blood pressure in all 4 extremities
b) Careful fundoscopic examination
c) Rectal examination
d) Measurement of blood pressure with postural change
e) Cubitus valgus and shield shaped chest
Complete androgen insensitivityComplete androgen insensitivity
XY genotypeXY genotype Non functioning androgen receptorNon functioning androgen receptor Sertoli cells – AMHSertoli cells – AMH
Regression of Mullerian structuresRegression of Mullerian structures
Leydig cells – testosteroneLeydig cells – testosterone No functioning receptorNo functioning receptor Therefore Wolffian regressionTherefore Wolffian regression
Testosterone converted to DHT Testosterone converted to DHT – No functioning receptorNo functioning receptor– Therefore normal female external genitaliaTherefore normal female external genitalia
Early PubertyEarly Puberty
The earliest sign of puberty in a male is: The earliest sign of puberty in a male is:
a) Enlargement of the penisb) Enlargement of the testesc) Growth accelerationd) Pubic hair growthe) Axillary hair growth
2 year old girl with breast development2 year old girl with breast development– No growth accelerationNo growth acceleration– No bone age advancementNo bone age advancement– No detectable estradiol, LH or FSHNo detectable estradiol, LH or FSH
The most likely diagnosis is:a) Ingestion of her mother’s OCPsb) Precocious pubertyc) Premature adrenarched) Premature thelarchee) McCune Albright Syndrome
Benign Premature ThelarcheBenign Premature Thelarche
Isolated breast developmentIsolated breast development– 80% before age 2 80% before age 2 – Rarely after age 4Rarely after age 4Not associated with other signs of puberty Not associated with other signs of puberty (growth acceleration, advancement of bone age)(growth acceleration, advancement of bone age)Children go on to normal timing of puberty and Children go on to normal timing of puberty and normal fertilitynormal fertilityBenign processBenign processRoutine follow-up Routine follow-up
5 year female with 6 months of pubic hair growth. Very fine axillary hair as well as adult odor to sweat.No breast development
No exposure to androgens
Growth chart:Normal growth without growth acceleration
Most likely diagnosis:1. Precocious puberty2. Benign premature adrenarche3. Non-classical congenital adrenal hyperplasia4. Adrenal tumor5. Pinealoma
Benign Premature AdrenarcheBenign Premature Adrenarche
Production of adrenal androgens before true Production of adrenal androgens before true pubertal development beginspubertal development beginsPresents as isolated pubic hair in mid childhoodPresents as isolated pubic hair in mid childhood– No growth accelerationNo growth acceleration– No testicular enlargement in boysNo testicular enlargement in boysIf normal growth rate, routine follow-upIf normal growth rate, routine follow-upIf accelerated growth and/or bone age If accelerated growth and/or bone age advancement, screen for advancement, screen for – CAHCAH– Virilizing tumor (adrenal/gonadal)Virilizing tumor (adrenal/gonadal)
Choose correct answerChoose correct answer
A.A. Premature theralchePremature theralche
B.B. Premature adrenarchePremature adrenarche
C.C. BothBoth
D.D. NeitherNeither
1. Growth acceleration
2. Normal adolescent sexual development
3. Onset of gonadal function usually in 2-3 years
D
C
B
You suspect a 16 year female has Turner You suspect a 16 year female has Turner syndrome. The most definitive diagnostic test issyndrome. The most definitive diagnostic test is
a) Buccal smearb) Chromosome analysisc) Measuring her FSH and LHd) Determining her bone agee) Determining her testosterone level
5 year old girl with pubic hair and rapid growth. 5 year old girl with pubic hair and rapid growth. She has no breast developmentShe has no breast development
Possible sources of androgens:
1.Liver
2.Adrenal
3.Ovary
4.Pituitary
5.Pineal
T
F
F
F
T
5 year old girl with pubic hair and rapid growth. 5 year old girl with pubic hair and rapid growth. She has no breast developmentShe has no breast development
Which of the following should be considered Answer T or F for each:
a) Central precocious puberty
b) Congenital adrenal hyperplasia
c) McCune Albright syndrome
d) Benign premature adrenarche
e) Adrenal tumor
F
T
T
F
F
When does puberty occur?When does puberty occur?
Classic teachingClassic teaching– 8 -13 in girls 8 -13 in girls (menarche (menarche ~ ~ 2 years 2 years
after onset of after onset of puberty)puberty)
– 9 -14 in boys9 -14 in boys
Case:Breast development: 6 yearsMother had menarche: 9.5 years
WhyWhy
Reactivation of Reactivation of hypothalamic –hypothalamic –pituitary –gonadal pituitary –gonadal axisaxis
Gonadatropin dependent Gonadatropin dependent (central) precocious puberty(central) precocious puberty
Clock turns on earlyClock turns on earlyIdiopathicIdiopathic > 95 % girls> 95 % girls
~~ 50 % boys 50 % boys– Hypothalamic hamartoma (Gelastic seizures)Hypothalamic hamartoma (Gelastic seizures)– NF (optic glioma)NF (optic glioma)– Head traumaHead trauma– NeurosurgeryNeurosurgery– Anoxic injuryAnoxic injury– HydrocephalusHydrocephalus
TreatmentTreatment
WhyWhy– PsychosocialPsychosocial
– HeightHeight
WhatWhat– GnRH agonistGnRH agonist
Precocious puberty in the malePrecocious puberty in the male
Gonadotropins
Prepubertal Pubertal
Gonadotropin independentGonadotropin independent Central precociousCentral precociousprecocious pubertyprecocious puberty pubertypuberty
LH
GGLeydig cell
Precocious puberty in the malePrecocious puberty in the male
Gonadotropins
Prepubertal Pubertal
Gonadotropin independentGonadotropin independent Central precociousCentral precociousprecocious pubertyprecocious puberty pubertypuberty
HCG LH
**McCune Albright
syndrome
GG GG*
Familial malePrecocious puberty(testotoxicosis)
1. Gonadotropin independent PP2. Polyostotic Fibrous Dysplasia3. Café au lait macules
Leydig cell
This child may well develop1. Hypothyroidism2. Acoustic neuroma3. Precocious puberty4. Hypocalcemia and hyperphosphatemia5. Optic nerve hypoplasia
Growth disorders andGrowth disorders anddelayed pubertydelayed puberty
Delayed pubertyDelayed puberty
HypogonadismHypogonadism
HypergonadotropicHypogonadism (↑FSH, LH)
Primary gonadal failure- Chromosomal - iatrogenic (cancer therapy)- autoimmune oophoritis- galactosemia- test. biosynthetic defect
HypogonadotropicHypogonadism (FSH, LH)
Constitutionaldelay
Central Hypogonadism- Isolate gonad. def. - MPHD- Kallmann (anosmia)- Functional
A 15 yr boy has short stature and delayed A 15 yr boy has short stature and delayed puberty. He is now in early puberty (Tanner 2). puberty. He is now in early puberty (Tanner 2). His parents are of average stature. His height His parents are of average stature. His height and weight are just below 3and weight are just below 3rdrd percentile. percentile.
All of the following are likely except:All of the following are likely except:
a) A bone age of 12 ½ yearsb) Growth hormone deficiencyc) Adult height in the normal ranged) Acceleration of growth and sexual maturation
over the next 2 years.e) History of normal length and weight at birth
A 15 yr male has delayed puberty. He also has A 15 yr male has delayed puberty. He also has headaches, diplopia and increased urination. headaches, diplopia and increased urination. His height is < 3His height is < 3rdrd percentille percentille
Which of the following is the most likely Which of the following is the most likely diagnosis?diagnosis?
a) Diabetes mellitusb) Pinealomac) Cerebellar tumord) Craniopharyngiomae) Pituitary adenoma
A 14 yr male has tender gynecomastia (3 cm in A 14 yr male has tender gynecomastia (3 cm in diameter bilaterally). He is in early to mid diameter bilaterally). He is in early to mid puberty. In most cases the best management for puberty. In most cases the best management for this gynecomastia is:this gynecomastia is:
a) Treatment with an anti-estrogen (e.g. Tamoxifen)b) Treatment with an aromatase inhibitorc) Treatment with a dopamine agonist
(bromocryptine)d) Surgerye) Reassurance
MiscellaneousMiscellaneous
HypoglycemiaHypoglycemia
Decreased substrateDecreased substrate– Poor intakePoor intake– Defective glycogenolysis or gluconeogenesisDefective glycogenolysis or gluconeogenesis
Increase utilizationIncrease utilization– SepsisSepsis– HyperinsulinismHyperinsulinism
Absent counter regulatory hormonesAbsent counter regulatory hormones– GHGH– CortisolCortisol
Choose correct answerChoose correct answer
A.A. Hypoglycemia from hyperinsulinemiaHypoglycemia from hyperinsulinemia
B.B. Hypoglycemia from metabolic fuel depletionHypoglycemia from metabolic fuel depletion
C.C. BothBoth
D.D. NeitherNeither
1. Usually preceded by ketosis
2. Brisk respones to glucagon
3. Usually responds to oral glucose
B
A
B
Side effects of corticosteroids include all of the Side effects of corticosteroids include all of the following exceptfollowing except
a) hypertensionb) hypoglycemiac) decrease bone mineralizationd) myopathye) cataracts
What is the most likely diagnosis in this newborn infant?
1. Mother has SLE2. Anasarca from cardiac failure3. Systemic allergic reaction 4. Congenital nephrotic syndrome5. Turner syndrome
5 year old male with short stature
1. Turner syndrome2. VATER syndrome3. Albright’s hereditary osteodystrophy4. Noonan syndrome5. Goldenhar syndrome
A moderately obese adolescent female has A moderately obese adolescent female has irregular periods, hirsutism and acneirregular periods, hirsutism and acne
Of the following, which is the most likely Of the following, which is the most likely diagnosis?diagnosis?
a) Cushing syndromeb) Polycystic ovarian syndromec) Virilizing adrenal tumord) Non-classical CAHe) Hyperprolactinemia
Choose correct answerChoose correct answer
A.A. Diabetes mellitusDiabetes mellitus
B.B. Diabetes insipidusDiabetes insipidus
C.C. BothBoth
D.D. NeitherNeither
1. Osmolality of serum > 300 Osm/L
2. Osmolality of urine > 500 mOsm/L
3. Hypernatremia
C
A
B