Endocrinology Calcium An otherwise healthy 6-week infant ...
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    Endocrinology Calcium An otherwise healthy 6-week infant ... Endocrinology Calcium An otherwise healthy 6-week infant ... Presentation Transcript

    • Endocrinology
    • Calcium
      • An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. The child is somewhat sleepy with a non focal examination. Lab data : Glucose 88 mg/dL Sodium 141 mEq/L Calcium 5.1 mg/dL Phosphorus 9.1 mg/dL Magnesium 2.1 mg/dL
      • The most likely diagnosis is:
      • Pseudohypoparathyroidism
      • Hypoparathyroidism
      • Vitamin D deficiency
      • Albright’s hereditary osteodystrophy
    • Actions of PTH 1. 2. Ca PO 4 NET EFFECT 25 OH Vit D 1,25 (OH) 2 Vit D 1  hydroxylase 3. Gut
      • An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. The child is somewhat sleepy with a non focal examination. Lab data : Glucose 88 mg/dL Sodium 141 mEq/L Calcium 5.1 mg/dL Phosphorus 9.1 mg/dL Magnesium 2.1 mg/dL
      • The most likely diagnosis is:
      • Pseudohypoparathyroidism
      • Hypoparathyroidism
      • Vitamin D deficiency
      • Albright’s hereditary osteodystrophy
      • An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. The child is somewhat sleepy with a non focal examination. Lab data : Glucose 88 mg/dL Sodium 141 mEq/L Calcium 5.1 mg/dL Phosphorus 9.1 mg/dL Magnesium 2.1 mg/dL
      • What is an important diagnostic consideration (i.e. what else is the child at risk for)
      • DiGeorge syndrome – thymic aplasia, congenital heart disease, immune deficiency
    • Biochemical changes in rickets Ca PO 4 Bone Urine Stage 1 Stage 2 N Minimal changes N Rickets Aminoaciduria Phosphaturia
    • Initial Ca: PO 4 : Alk Phos: 9.7 3.1 2514 2 ½ weeks 9.8 3.5 2185 4 months 10.5 6.5 518
      • Normal Normal Low
      • Low Low Low
      • Low Increased Increased
      • Low Normal Normal
      • Normal Low Increased
      CALCIUM PHOS ALK PHOS Which is consistent with vitamin D deficiency rickets?
    • Choose correct answer
      • Vitamin D deficiency rickets
      • Renal osteodystrophy (renal rickets)
      • Both
      • Neither
      1. Increased phosphate level 2. Increased PTH level 3. Increased creatinine level B C B
    • THYROID
      • 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 range
      • TSH 37  IU/ml < 20
      • T4 10.1  g/dl 9-19
      • This child:
      • Has congenital hypothyroidism and should be referred to a congenital hypothyroidism treatment center
      • Will likely develop mental retardation if untreated
      • Likely does not have any thyroid abnormality
      • Has an altered hypothalamic set-point for T4
      • Should be started on thyroxine replacement immediately
      •  
    •  
    • Venipuncture: (1/25/01) Normal range TSH 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 range TSH >200  IU/ml < 20 T4 2.1  g/dl 9-19  
    • Congenital hypothyroidism
      • Thyroid dysgenesis/agenesis
      • Prevalence 1 in 4,000 [Whites 1 in 2,000; Blacks 1 in 32,000]
      • 2:1 female to male ratio
      • Clinical features include: hypotonia, enlarged posterior fontanelle, umbilical hernia, indirect hyperbilirubinemia
      • Laboratory findings: Very high TSH and low T4
      • Therapy: 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 abnormal newborn thyroid screen at 3 days which revealed a low T4 and normal TSH. Repeat venipuncture showed: T4 2.1 μ g/dL (4.5-12.5) TSH 2.3 μ IU/mL (0.3-5.0)
      • The most likely diagnosis is:
      • Hypothyroidism due to dysgenesis of the thyroid gland
      • Central hypothyroidism
      • TBG deficiency
      • Hypothyroidism from excess iodine exposure
      • Normal thyroid function (as the TSH is normal)
    • Central hypothyroidism - rare TBG deficiency 1:2800 vs.
    • Thyroxine (T4)
      • Major product secreted by the thyroid
      • Circulates bound to thyroid binding proteins - thyroid binding globulin (TBG)
      • Only a tiny fraction (< 0.1%) is free and diffuses into tissues
      • When we measure T4, we measure the T4 that is bound to protein
      • The level of T4 is therefore largely dependent on the amount of TBG
      • Changes in T4 may reflect TBG variation rather than underlying pathology
    • TBG deficiency Central hypothyroidism 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 range TSH: 3.7  IU/ml 0.3-5.5 T4: 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 range
      • TSH: 3.7  IU/ml 0.3-5.5
      • T4: 13.4  g/dl 4.5-12
      •  
      • Which of the following medication could explain the thyroid function abnormality
      • INH
      • Ortho Tri-Cylen
      • Retinoid acid
      • Ciprofloxacin
      • Doxycycline
    • Conditions that cause alterations in TBG Increased TBG Decreased TBG Infancy Familial deficiency Estrogen Androgenic steroid treatment - OC Pill Glucocorticoids (large dose) - pregnancy Nephrotic syndrome Familial excess Acromegaly Hepatitis Tamoxifen treatment
      • A 12-yr female has diffuse enlargement of the thyroid. She is asymptomatic. Her disorder is most likely associated with which of the following pathological processes
      • Infectious
      • Inflammatory
      • Autoimmune
      • Toxic (drug)
      • Neoplastic
    • Normal thyroid Hashimoto thyroiditis
    • DC
      • 16 year 7 month
      • Growth failure x 1 1/2 years
      • Labs : 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)
    • DC Start of thyroxine
    • Hashimoto thyroiditis Background : Autoimmune destruction of the thyroid Family history in 30-40% Lymphocytic infiltration Clinical : Growth failure, constipation, goiter, dry skin, weight gain, slow recoil of DTR Laboratory : High TSH Anti-thyroglobulin and anti-peroxidase antibodies Therapy : Thyroxine
    • 15 year old female with a history of easy fatigability. Found to have an elevated pulse rate at recent MD visit   Thyroid function: Normal range TSH < 0.1  IU/ml 0.3-5.5 T4 14.8  g/dl 4.5-12 T3 580 ng/dl 90-190
    • Restlessness, poor attention span Eye changes Goiter Tachycardia, wide pulse pressure Increased GFR - polyuria Diarrhea Menstrual 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 ( 131 I) Pros : Easy. Essentially free of side effects Cons: Long term hypothyroidism Surgery  Blockers if markedly hyperthyroid Therapy for Graves disease :
    • Sexual differentiation
      • Ambiguous genitalia is found in a newborn. The baby is noted to be hyperpigmented. Ultrasound demonstrates the presence of a uterus. The most useful test to aid in the diagnosis of this medical condition is :
      • Testosterone
      • 17-hydroxyprogesterone
      • Serum sodium and potassium
      • DHEAS
      • DHEAS/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 hyperplasia, which abnormalities are likely to develop. True or False for each
      • Increased serum potassium
      • Decreased serum sodium
      • Decreased bicarbonate
      • Decreased plasma cortisol
      • Increased plasma renin activity
      T T T T T
      • A 1-year male infant has non palpable testes. Of the following, the most appropriate next step would be
      • Schedule a re-examination in 18 months
      • Refer the patient for an exploratory laparotomy
      • Begin therapy with LHRH
      • Measure the plasma testosterone after stimulation with HCG
      • 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: WBC 16.7 Hb 16.4 Hct 49 Plt 537 K Na 121 K 9.3 Cl 83 CO 2 6.7 Glucose 163 BUN/Creat 33/0.2 CSF: Chemistry: Protein 74 Glucose 82 Microscopy: WBC 6 RBC 100
    • Emergency therapy
      • Fluid resuscitation: 20 ml/kg Normal saline
      • Glucocorticoid 2 mg/kg Solucortef IV
      • Monitor EKG
    • Modes of presentation
      • Classical
        • Simple virilizing
        • Virilizing with salt loss
      • “ Non classical” / Late onset
    • Therapy and evaluation of therapy
      • Glucocorticoid (Hydrocortisone)
        • Monitor growth, 17-OHP, urinary pregnanetriol
      • Fluorocortisol (Florinef 0.1 – 0.45 mg/day)
        • Blood pressure, plasma renin activity (PRA)
      • Supplemental salt
        • Until 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 Genotype Complete androgen insensitivity Testosterone Estradiol Androgen Receptor Estrogen Receptor Aromatase
    • 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
      • Blood pressure in all 4 extremities
      • Careful fundoscopic examination
      • Rectal examination
      • Measurement of blood pressure with postural change
      • Cubitus valgus and shield shaped chest
    • Complete androgen insensitivity
      • XY genotype
      • Non functioning androgen receptor
      • Sertoli cells – AMH
        • Regression of Mullerian structures
      • Leydig cells – testosterone
        • No functioning receptor
        • Therefore Wolffian regression
      • Testosterone converted to DHT
        • No functioning receptor
        • Therefore normal female external genitalia
    • Early Puberty
      • The earliest sign of puberty in a male is:
      • Enlargement of the penis
      • Enlargement of the testes
      • Growth acceleration
      • Pubic hair growth
      • Axillary hair growth
      • 2 year old girl with breast development
        • No growth acceleration
        • No bone age advancement
        • No detectable estradiol, LH or FSH
      • The most likely diagnosis is:
      • Ingestion of her mother’s OCPs
      • Precocious puberty
      • Premature adrenarche
      • Premature thelarche
      • McCune Albright Syndrome
    • Benign Premature Thelarche
      • Isolated breast development
        • 80% before age 2
        • Rarely after age 4
      • Not associated with other signs of puberty (growth acceleration, advancement of bone age)
      • Children go on to normal timing of puberty and normal fertility
      • Benign process
      • 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:
      • Precocious puberty
      • Benign premature adrenarche
      • Non-classical congenital adrenal hyperplasia
      • Adrenal tumor
      • Pinealoma
    • Benign Premature Adrenarche
      • Production of adrenal androgens before true pubertal development begins
      • Presents as isolated pubic hair in mid childhood
        • No growth acceleration
        • No testicular enlargement in boys
      • If normal growth rate, routine follow-up
      • If accelerated growth and/or bone age advancement, screen for
        • CAH
        • Virilizing tumor (adrenal/gonadal)
    • Choose correct answer
      • Premature theralche
      • Premature adrenarche
      • Both
      • Neither
      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 syndrome. The most definitive diagnostic test is
      • Buccal smear
      • Chromosome analysis
      • Measuring her FSH and LH
      • Determining her bone age
      • Determining her testosterone level
      • 5 year old girl with pubic hair and rapid growth. She has no breast development
      • Possible sources of androgens:
      • Liver
      • Adrenal
      • Ovary
      • Pituitary
      • Pineal
      T F F F T
      • 5 year old girl with pubic hair and rapid growth. She has no breast development
      • Which of the following should be considered
      • Answer T or F for each:
      • Central precocious puberty
      • Congenital adrenal hyperplasia
      • McCune Albright syndrome
      • Benign premature adrenarche
      • Adrenal tumor
      F T T F F
    • When does puberty occur?
      • Classic teaching
        • 8 -13 in girls (menarche ~ 2 years after onset of puberty)
        • 9 -14 in boys
      Case : Breast development: 6 years Mother had menarche: 9.5 years
    • Why
      • Reactivation of hypothalamic –pituitary –gonadal axis
    • Gonadatropin dependent (central) precocious puberty
      • Clock turns on early
      • Idiopathic
        • > 95 % girls ~ 50 % boys
        • Hypothalamic hamartoma (Gelastic seizures)
        • NF (optic glioma)
        • Head trauma
        • Neurosurgery
        • Anoxic injury
        • Hydrocephalus
    • Treatment
      • Why
        • Psychosocial
        • Height
      • What
        • GnRH agonist
    • Precocious puberty in the male Gonadotropins Prepubertal Pubertal Gonadotropin independent Central precocious precocious puberty puberty LH G Leydig cell
    • Precocious puberty in the male Gonadotropins Prepubertal Pubertal Gonadotropin independent Central precocious precocious puberty puberty LH G Leydig cell  HCG * McCune Albright syndrome G * Familial male Precocious puberty (testotoxicosis) 1. Gonadotropin independent PP 2. Polyostotic Fibrous Dysplasia 3. Café au lait macules
      • This child may well develop
      • Hypothyroidism
      • Acoustic neuroma
      • Precocious puberty
      • Hypocalcemia and hyperphosphatemia
      • Optic nerve hypoplasia
    • Growth disorders and delayed puberty
    • Delayed puberty Hypogonadism Hypergonadotropic Hypogonadism ( ↑FSH, LH) Primary gonadal failure - Chromosomal - iatrogenic (cancer therapy) - autoimmune oophoritis - galactosemia - test. biosynthetic defect Hypogonadotropic Hypogonadism (  FSH, LH) Constitutional delay Central Hypogonadism - Isolate gonad. def. - MPHD - Kallmann (anosmia) - Functional
      • A 15 yr boy has short stature and delayed puberty. He is now in early puberty (Tanner 2). His parents are of average stature. His height and weight are just below 3 rd percentile.
      • All of the following are likely except:
      • A bone age of 12 ½ years
      • Growth hormone deficiency
      • Adult height in the normal range
      • Acceleration of growth and sexual maturation over the next 2 years.
      • History of normal length and weight at birth
      • A 15 yr male has delayed puberty. He also has headaches, diplopia and increased urination. His height is < 3 rd percentille
      • Which of the following is the most likely diagnosis?
      • Diabetes mellitus
      • Pinealoma
      • Cerebellar tumor
      • Craniopharyngioma
      • Pituitary adenoma
      • A 14 yr male has tender gynecomastia (3 cm in diameter bilaterally). He is in early to mid puberty. In most cases the best management for this gynecomastia is:
      • Treatment with an anti-estrogen (e.g. Tamoxifen)
      • Treatment with an aromatase inhibitor
      • Treatment with a dopamine agonist (bromocryptine)
      • Surgery
      • Reassurance
    • Miscellaneous
    • Hypoglycemia
      • Decreased substrate
        • Poor intake
        • Defective glycogenolysis or gluconeogenesis
      • Increase utilization
        • Sepsis
        • Hyperinsulinism
      • Absent counter regulatory hormones
        • GH
        • Cortisol
    • Choose correct answer
      • Hypoglycemia from hyperinsulinemia
      • Hypoglycemia from metabolic fuel depletion
      • Both
      • Neither
      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 following except
      • hypertension
      • hypoglycemia
      • decrease bone mineralization
      • myopathy
      • cataracts
      • What is the most likely diagnosis in this newborn infant?
      • Mother has SLE
      • Anasarca from cardiac failure
      • Systemic allergic reaction
      • Congenital nephrotic syndrome
      • Turner syndrome
    • 5 year old male with short stature
      • Turner syndrome
      • VATER syndrome
      • Albright’s hereditary osteodystrophy
      • Noonan syndrome
      • Goldenhar syndrome
      • A moderately obese adolescent female has irregular periods, hirsutism and acne
      • Of the following, which is the most likely diagnosis?
      • Cushing syndrome
      • Polycystic ovarian syndrome
      • Virilizing adrenal tumor
      • Non-classical CAH
      • Hyperprolactinemia
    • Choose correct answer
      • Diabetes mellitus
      • Diabetes insipidus
      • Both
      • Neither
      1. Osmolality of serum > 300 Osm/L 2. Osmolality of urine > 500 mOsm/L 3. Hypernatremia C A B