Medicine Marrow Pg No 855-864 (Endocrinology)
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Questions and Answers

Which type of Multiple Endocrine Neoplasia syndrome is associated with the MENIN gene mutation?

  • MEN 2B/MEN 3
  • MEN 2A
  • MEN 4
  • MEN 1 (correct)

    • MEN 2A is characterized by an intron inversion causing a base pair deletion.

    False

    What is the most common benign tumor associated with MEN 1?

    Adreno cortical adenoma

    The major manifestation of MEN 1 includes collagenoma and ________.

    <p>lipoma</p> Signup and view all the answers

    Match the following types of MEN syndromes with their primary characteristic:

    <p>MEN 1 = MENIN gene mutation MEN 2A = Medullary thyroid carcinoma MEN 2B = Mucosal neuromas MEN 4 = Unknown genetic basis</p> Signup and view all the answers

    What is the initial dosage for Phenoxybenzamine in BP control?

    <p>10 mg OD</p> Signup and view all the answers

    Metyrosine is commonly used in BP control.

    <p>False</p> Signup and view all the answers

    What type of blocker is Phenoxybenzamine?

    <p>Non-selective, irreversible, non-competitive inhibitor</p> Signup and view all the answers

    For HR control, __________ can be administered three days before surgery.

    <p>β blockers</p> Signup and view all the answers

    Match the following medications with their usage:

    <p>Phenoxybenzamine = BP control Atenolol = HR control before surgery Sodium nitroprusside = Intraoperative hypertension management Amlodipine = Calcium channel blocker for BP</p> Signup and view all the answers

    What is the primary type of cancer associated with Classical MEN 2A?

    <p>Medullary thyroid cancer</p> Signup and view all the answers

    Familial medullary thyroid cancer (FMTC) is also known as MEN 2B.

    <p>False</p> Signup and view all the answers

    Name one additional feature associated with MEN 2B besides medullary thyroid cancer.

    <p>Marfanoid habitus</p> Signup and view all the answers

    In MEN 4, a mutation in __________ is typically present.

    <p>CDKN IB</p> Signup and view all the answers

    Match the following types of MEN syndromes with their characteristic features:

    <p>Classical MEN 2A = Medullary thyroid cancer, pheochromocytoma, parathyroid hyperplasia MEN 2B = Marfanoid habitus, mucosal &amp; intestinal ganglioneuromatosis MEN 4 = CDKN IB mutation and multiple tumor types FMTC = Familial occurrence of medullary thyroid cancer</p> Signup and view all the answers

    What is the most common type of incidental adrenal mass?

    <p>Endocrine inactive/non-functional tumor</p> Signup and view all the answers

    All incidental adrenal masses are malignant.

    <p>False</p> Signup and view all the answers

    Name one alarm sign in non-functioning tumors.

    <p>Size ≥ 4 cm</p> Signup and view all the answers

    A malignant, endocrine active tumor that produces cortisol is known as a ______.

    <p>Cortisol producing tumor</p> Signup and view all the answers

    Match the following characteristics with their corresponding type of tumor:

    <p>Benign = Endocrine inactive/non-functional tumor Malignant = Endocrine active/functional tumor Size indicator = ≥ 4 cm CT density indicator = &gt;20 HU</p> Signup and view all the answers

    What percentage of total bone mass does cortical/compact bone contribute?

    <p>80%</p> Signup and view all the answers

    Trabecular bone has a low remodeling rate compared to cortical bone.

    <p>False</p> Signup and view all the answers

    What term is used to evaluate osteoporosis based on trabecular bone?

    <p>Trabecular Bone Score (TBS)</p> Signup and view all the answers

    The structural functional unit of cortical bone is called an __________.

    <p>osteon</p> Signup and view all the answers

    Match the following features with their respective types of bone:

    <p>Cortical bone = Low porosity Trabecular bone = Epiphysis and vertebrae</p> Signup and view all the answers

    What is the sensitivity of the Plasma Fractionated Metanephrine/Nm test?

    <p>100%</p> Signup and view all the answers

    MIBG is currently the preferred imaging method for adrenal pheochromocytoma.

    <p>False</p> Signup and view all the answers

    What treatment is the standard of care for adrenal pheochromocytoma?

    <p>Laparoscopic retroperitoneal adrenalectomy</p> Signup and view all the answers

    Gallium DOTATATE PET scan is used if MRI is negative but biochemical tests are positive, indicating a __________.

    <p>paraganglioma</p> Signup and view all the answers

    Match the following imaging techniques with their descriptions:

    <p>MRI abdomen = Shows hyperintensities with hemorrhagic/cystic changes MIBG = Obsolete imaging method FDG-PET = Obsolete imaging method Gallium DOTATATE PET scan = Used if MRI is negative but biochemical tests are positive</p> Signup and view all the answers

    What is the primary age group affected by APS Type 1 in childhood?

    <p>Both genders are equally affected</p> Signup and view all the answers

    In adults, Hashimoto's thyroiditis is more common than Graves' disease in APS Type 1.

    <p>True</p> Signup and view all the answers

    Which gene is associated with childhood APS Type 1?

    <p>APECED gene</p> Signup and view all the answers

    The autoantibody commonly found in APS Type 1 in adults is __________.

    <p>Anti 21 hydroxylase antibody</p> Signup and view all the answers

    Match the following features of APS Type 1 with the correct category:

    <p>Candidiasis = Minor manifestations Hypogonadism = Minor manifestations Graves' disease = Major manifestations in childhood Addison's disease = Major manifestations in both childhood and adult</p> Signup and view all the answers

    What is the most common cause of death in MEN I?

    <p>Gastrinoma</p> Signup and view all the answers

    Primary hyperparathyroidism is more common in females compared to males.

    <p>False</p> Signup and view all the answers

    What is the peak age of presentation for sporadic primary hyperparathyroidism?

    <p>60 years</p> Signup and view all the answers

    The treatment for small multifocal gastrinomas includes _____ and octreotide.

    <p>streptozocin</p> Signup and view all the answers

    Match the following neuroendocrine tumors with their respective features:

    <p>Gastrinoma = Located in the duodenum Insulinoma = Causes hypoglycemia VIPoma = Associated with WDHA syndrome Glucagonoma = Migratory necrolytic rash</p> Signup and view all the answers

    What is the primary type of collagen found in organic constituents of bone?

    <p>Type I</p> Signup and view all the answers

    Osteocalcin is one of the non-collagenous proteins found in bone.

    <p>True</p> Signup and view all the answers

    Name one disorder associated with Type IV collagen.

    <p>Chondrodysplasia</p> Signup and view all the answers

    The primary inorganic constituents of bone include calcium, phosphorous, and __________.

    <p>magnesium</p> Signup and view all the answers

    Match the collagen types with their associated disorders:

    <p>Type VII = Ehlers-Danlos syndrome (EDS) Type IV = Alport syndrome Type I = Osteogenesis imperfecta Type III = Elder’s syndrome (classical type)</p> Signup and view all the answers

    Which type of collagen is primarily found in the vitreous humor?

    <p>Type II</p> Signup and view all the answers

    Matrix GLA protein acts as a vascular calcification inhibitor.

    <p>True</p> Signup and view all the answers

    What are the main types of cells found in bone?

    <p>Osteoblasts, Osteoclasts, Osteocytes</p> Signup and view all the answers

    Type __________ collagen is mainly found in the basement membrane.

    <p>IV</p> Signup and view all the answers

    Which of the following collagen types is primarily found in the vascular system?

    <p>Type III</p> Signup and view all the answers

    Which of the following syndromes is associated with the VHL gene on chromosome 3?

    <p>VHL syndrome</p> Signup and view all the answers

    McCune-Albright syndrome is inherited in an autosomal dominant pattern.

    <p>False</p> Signup and view all the answers

    Name one associated feature of Hyper parathyroidism/Jaw tumor syndrome.

    <p>Ossifying fibroma of jaw</p> Signup and view all the answers

    The gene associated with Couden syndrome is the ____ gene.

    <p>PTEN</p> Signup and view all the answers

    Match the following syndromes with their associated features:

    <p>VHL syndrome = Renal cell carcinoma (RCC) NF type I = Optic nerve sheath tumors Hyper parathyroidism/Jaw tumor syndrome = Atrial myxoma McCune-Albright syndrome = Polyostotic fibrous dysplasia</p> Signup and view all the answers

    Study Notes

    Multiple Endocrine Neoplasia (MEN) Syndromes

    • MEN 1: Autosomal dominant inheritance pattern, mutation in MENIN tumor suppressor gene on chromosome 11q.
      • Major Manifestations:
        • Collagenoma (more common than lipoma)
        • Tumors:
          • Benign: Adrenal cortical adenoma (most common), Meningioma (most common neurotumor), Pheochromocytoma
      • Treatment:
        • Start with alpha-blockers:
          • Phenoxybenzamine (DOC): 10mg daily, gradually increased to 10mg three times daily. Non-selective, irreversible, long-lasting, non-competitive inhibitor.
          • Prazosin (2.5mg daily, increased to 5mg twice daily) and Terazosin also used.
        • Calcium Channel Blockers: Amlodipine and Nicardipine if adequate blood pressure control not achieved.
        • Metyrosine: Rarely used.
      • Pre-operative Management:
        • 3 days before surgery: Beta-blockers for heart rate control (Atenolol: 12.5mg twice daily, increased to 25mg twice daily).
        • Intraoperative Hypertensive Crisis: Sodium nitroprusside or Nicardipine.

    MEN 2A:

    • RET protooncogene mutation on chromosome 10q.
    • Classical MEN 2A:
      • Medullary thyroid cancer (100%)
      • Pheochromocytoma (50%)
      • Parathyroid hyperplasia (25%)
    • Variations of MEN 2A:
      • MEN 2A + Cutaneous lichen amyloidosis
      • MEN 2A + Hirschprung's disease
      • Familial medullary Thyroid cancer (FMTC)

    MEN 2B/MEN 3:

    • RET protooncogene mutation on chromosome 10q.
    • Characteristics:
      • Medullary thyroid cancer (100%)
      • Pheochromocytoma (50%)
      • Marfanoid habitus
      • Mucosal and intestinal ganglioneuromatosis
      • Myelinated corneal nerve fibers

    MEN 4:

    • Cyclin-Dependent Kinase Inhibitor B (CDKN1B) mutation
    • Characteristics:
      • Parathyroid hyperplasia (adenoma)
      • Pituitary, Renal/adrenal, and Testicular/ovarian tumors

    Adrenal Medulla: Part 1

    • Incidental Adrenal Mass/Incidentaloma:
      • Benign (most common): Endocrine inactive/non-functional tumors.
      • Malignant: Endocrine active/functional tumors: Cortisol producing tumors more common than Pheochromocytomas.
    • Alarm Signs in Non-Functioning Tumors:
      • Tumor size ≥ 4 cm
      • CT density > 20 HU
      • CT contrast washout
    • 24-hour Fractionated Metanephrine/Normetanephrine (Nm) Screening Test:
      • Highly sensitive (98%)
      • Highly specific (98%)
    • Plasma Fractionated Metanephrine/Nm:
      • 100% sensitivity
      • No false negatives - Used along with 24-hour urine metanephrine/Nm in patients with a strong family history.
    • Imaging:
      • MRI abdomen: Used for adrenal pheochromocytoma. Shows hyperintensities with hemorrhagic or cystic changes.
      • MIBG: Obsolete
      • FDG-PET: Obsolete
      • Gallium DOTATATE PET scan: Useful for detecting paragangliomas
        • Indicated if MRI is negative but biochemical tests are positive.
        • DOTA binds to Octreotate, which binds to Somatostatin Receptor Type a (SSTR type 2) on the tumor surface.
    • Treatment: Laparoscopic retroperitoneal adrenalectomy (TOC)
    • Pre-Operative Preparation: Liberal fluid intake for 10 days before surgery.

    Inheritance Patterns

    • Hyperparathyroidism/Jaw tumor syndrome: Autosomal dominant. Parafibromin (CDC73) gene mutation. Associated with ossifying fibroma of jaw, atrial myxoma (lepidic pattern).
    • VHL syndrome: Autosomal dominant. VHL gene mutation on chromosome 3. Associated with renal cell carcinoma (RCC), cerebellar hemangioblastoma, islet cell tumors of pancreas, papillary cystadenoma of broad ligament of uterus, epididymal cyst, endolymphatic sac tumors.
    • Neurofibromatosis type I (NF-1): Autosomal dominant. Neurofibromin gene mutation on chromosome 17. Associated with neurofibromas, pheochromocytoma, optic nerve sheath tumors, meningiomas.
    • Cowden syndrome: Autosomal dominant. PTEN gene mutation. Associated with breast cancer, hamartomatous polyps of GIT.
    • McCune-Albright syndrome: Not inherited. Polyostotic fibrous dysplasia (PFD), precocious puberty, café au lait spots.

    BASICS OF BONE AND MINERAL METABOLISM

    • Skeletal system: Highly vascular; receives 10% of total cardiac output.
    • Types of Bone:
      • Cortical Bone (compact):
        • Makes up 80% of total bone mass.
        • Found in the diaphysis of long bones.
        • Has osteons as its structural functional unit.
        • Contains a Haversian system.
        • Remodelling rate and metabolic activity are low.
        • Low porosity.
      • Trabecular Bone (spongy/cancellous):
        • Makes up 20% of total bone mass.
        • Found epiphyses and vertebrae.
        • Has trabeculae as its structural functional unit.
        • No Haversian system.
        • Remodelling rate and metabolic activity are high.
        • High porosity.
    • Key Features of Trabecular Bone:
      • Osteoporosis is evaluated based on trabecular bone.
      • Bone mineral density (BMD) and Trabecular Bone Score (TBS) are newer investigations used for evaluating trabecular bone.

    Primary Hyperparathyroidism:

    • Men 1 Associated:
      • Occurs at a younger age (< 20 years).
      • Equal prevalence in males and females.
    • Sporadic:
      • Occurs in individuals over 40 years of age, with a peak prevalence at 60 years.
      • More common in females.
      • Clinical Presentation:
        • Both types: Hypercalcemia, recurrent stones, urinary tract infections.
        • Men 1 Associated: Acute abdominal pain
        • Overall most common symptom of hypercalcemia: Fatigue.
    • Treatment: 3 1/2 near-total parathyroidectomy.

    Pancreas: Enteropancreatic Neuroendocrine Tumors

    • Most common cause of death in MEN 1.
    • Most Common Types:
      • Gastrinoma (most common)
      • Insulinoma
      • Glucagonoma
      • VIPoma (20-40 years)
    • Glucagonoma: Migratory necrolytic erythematous rash.
    • VIPoma: Watery diarrhea, hypochlorhydria, acidosis (WDHA) syndrome. Normal anion gap metabolic acidosis (NAGMA).

    Gastrinomas:

    Feature MEN 1 Associated Sporadic
    Location Duodenum Passaro's triangle
    Size Small multifocal Large
    Risk of malignancy 50-60%
    Spread Endoscopic ultrasound, lymph nodes Somatostatin Receptor scintigraphy (SRS) scan, bloodstream
    Treatment Streptozocin + octreotide, surgery for tumors >2cm High-dose PPI

    Pituitary:

    • Prolactinoma: Aggressive macroadenomas.

    Organic Constituents of Bone: Collagen

    • Matrix Composition:
      • Organic (30-40%): Primarily type I collagen, non-collagenous proteins (osteopontin, osteocalcin, thrombospondin, matrix GLA protein, fibronectin)
      • Inorganic (60-70%): Calcium, phosphorus, magnesium
    • Cells (2%): Osteoblasts, osteoclasts, osteocytes
    • Distribution of Collagen Types:
      • Type I: Bone, connective tissue
      • Type V: Cartilage
      • Type II: Vitreous humor
      • Type III: Vascular system, lungs
      • Type IV: Basement membrane
      • Type VII: Dermal-epidermal junction (DEJ)
      • Type VIII: Endothelium

    Disorders Associated with Collagen Types:

    Collagen Type Associated Disorders
    Type VII Ehlers-Danlos syndrome (EDS) (Arthrochalasia type), Osteogenesis imperfecta, Osteoporosis, EDS classical type
    Type IV Chondrodysplasia, EDS type IV (vascular type), Alport syndrome, Goodpasture syndrome, Epidermolysis bullosa

    Polyglandular Autoimmune (PGA) Syndrome / Autoimmune Polyendocrine Syndrome (APS)

    • APS Type 1:
      • Childhood: Males = Females. Autosomal recessive inheritance. APECED gene (Autoimmune Poly Endocrinopathy with candidiasis & Ectodermal dystrophy) / AIRE gene.
      • Adulthood: Females > Males. Polygenic inheritance. HLA DR3, HLA DR4 association.
        • Clinical Manifestations:
          • Childhood:
            • Anti-21 hydroxylase antibody (Addison's disease)
            • Anti-interferon antibody
            • Thyroid: Graves' disease more common than Hashimoto's
            • Hypoparathyroidism
            • Addison's disease
            • Minor Manifestations: Candidiasis, Type 1 DM, Hypogonadism
          • Adulthood:
            • Anti-21 hydroxylase antibody
            • Thyroid: Hashimoto's more common than Graves' disease
            • Addison's disease
            • Associated with celiac disease

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    This quiz focuses on Multiple Endocrine Neoplasia (MEN) Syndromes, particularly MEN 1. It covers the genetic basis, major manifestations, treatment options, and pre-operative management strategies. Test your knowledge about these critical aspects of MEN syndromes.

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