PBL: Gigantism

  • By: Terri
  • Date: April 29, 2010
  • Time to read: 2 min.

Keywords:

  • 12 year old student
  • growing too tall too quickly (193cm)
  • height increase last 2 years: 45cm
  • gaining weight too excessively (over 150kg)
  • occasional frontal headache (mass effect)
  • need to pass urine frequently (too much AVP)
  • visual acuity reduced
  • High fasting blood sugar level
  • High serum IGF-1 level
  • High serum GH level
  • High prolactin (stalk effect)
  • MRI : Adenoma

Hypothesis:

  • Excess of GH secondary to pituitary adenoma leading to gigantism which if untreated can lead to acromegaly
  • Diabetes mellitus
  • Prolactinemia

Extra learning issue:
Multiple Endocrine Neoplasia (MEN)

  • A group of heritable syndromes
  • characterized by aberrant growth of benign/ malignant tumours of the endocrine glands
  • each with its own characteristic pattern
  • Inherited as autosomal dominant disorders

MEN type 1:

  • Wermer’s syndrome
  • Manifestation:
    • Hyperparathyroidism *
    • Pancreatic tumours
    • Pituitary adenoma
    • Carcinoid tumours
    • Adrenal adenomas
    • Subcutaneous lipomas
    • Facial angiofibromas
    • Collagenomas
  • Less than 1% of pituitary tumours
  • Gene mutations: menin
  • Screen for ZES. If positive, screen for MEN1

MEN type 2:

  • MEN 2A (Sipple’s syndrome) & MEN2B
  • Manifestation 2A:
    • Hyperparathyroidism
    • Medullary carcinoma of thyroid *
    • Pheochromocytoma
  • Manifestation 2B:
    • Medullary carcinoma of thyroid
    • Mucosal neuromas
    • Marfanoid habitus (Marfan)
    • Pheochromocytoma
    • Ganglioneuromatosis of bowel

image
MEN 2B: Multiple neuromas on the lips & tongue. Marfanoid facies (look like a Marfan syndrome patient)
image 
Multiple neuromas on the lips & tongue.

  • Treatment: Total thyroidectomy with at least central lymph node dissection.
  • Screening: RET coding sequence.

Other causes of hypersecretion besides MEN:

  1. Carney Complex
  • Autosomal dominant disorder
  • Characterized often by cardiac, endocrine, cutanueous, breast & skin spotty pigmentation.
  • Tumour

2. McCure-Albright Syndrome (MAS)
3. Neurofibrosis
Pituitary adenoma
Classification
Functional

  • hormonal secretion (prolactinoma, ACTHoma, GHoma)

Size

  • Microadenoma (<1 cm)
  • Macroadenoma (>1cm)
  • Giant adenoma – Rare (>4cm)

Treatment of pituitary adenoma:

  • Trans-sphenoidal surgery
  • External radiotherapy
  • Somatostatin analogues (reduce GH & IGF-1)
  • Dopamine agonist (therapy for acromegaly, shrink tumour)
  • Growth Hormone antagonist (Pegvisomant, bind to GH receptor & prevent dimerization)

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