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