Pituitary Apoplexy
Acute Hemorrhage or Ischemic infarction of a pituitary adenoma, presenting with sudden onset severe headache, visual field defects, ophthalmoplegia and life threatening secondary adrenal insufficiency
MEN1
The three P’s, Parathyroid tumors, Pancreatic neuroendocrine tumors, Pituitary tumors.
Menin - which is a tumor suppressor gene, autosomal Dominat mutation
Parathyroid adenoma, Pituitary adenoma and Pancreatic neuroendocrine tumors, Gastronome, insulinoma, VIPoma and Glucagonoma
MEN2A
MTC-
Produces Calcitonin
Pheochromoytoma
Hyperparathyoridism
MEN2B
Rare autosomal dominant mutation of the RET gene (Proto-oncogene)
DiGeorge Syndrome
DiGeorge Syndrome is due to 22q11 deletion and causes parathyroid and thymic hypolasia, leading to hypocalcemia, hyperphosphatemia, T cell deficiency with normal B cell numbers.
Hemochromatosis
Autosomal Recessive, Mutations in the HFE gene, located on chromosome 6, leads to abnormally low Hepcidin production, increased intestinal absorption. Iron accumulates, Liver, Pancreas, Skin, Heart, Joints.
Arthopathy, Calcium pyrohosphate crystals Calcium pyrophosphate crystals.
VHL (Tumor suppressor gene),
Autosomal Dominant
Chromosome 3, VHL gene, codes for proteins that degrade Hypoxia inducible transcription factor PDGF, HIF, VEGF increases risk of tumor formation
1. Hemangioblastoma
2. Benign Cysts
RCC, PTEN. Pheochromocytoma, Hemagioblastoma, Retinal Hemangioblastomas.
Bilateral RCC, pancreatic neuroendocrine tumor
RCC
Clear cell carcinoma is the most common variant of RCC, can secrete PTHrp and EPO.
Acromegaly
Acromegaly results from GH excess after Growth plate closure, causing progressive soft tissue, skeletal and metabolic changes. Common features include CTS, Skeletal Deformities. Diagnosis is confirmed by serum IGF-1 and treatment involves somatostatin analogues like Octreotide to suppress GH secretion.
Pituitary Tumors
Trans-sphenoidal Pituitary surgery performed via a nasal approach proceeds through, the sphenoid gives access to the pituitary while avoiding major brain retraction.
Cricothyroid muscle
External branch of the Superior Laryngeal Nerve, innervates the Cricothyroid muscle which is, acts to tense the vocal cords
Evolocumab
PCSK9 inhibitor used to lower high LDL, and used to reused the risk of stroke and heart attacks in adults. Is a serine protease that regulates the concentration of LDL on hepatocyte cell surface,
Acanthosis Nigricans
Is characterized by a hyperinsuliemic state, can be associated with PCOS
SIADH
Certain medication like SSRIs, Carbamezapine and Cyclophosphamide.
Papillary Carcinoma
Radiation Increases the risk of Papillary Thyroid Carcinoma, Empty appearing nucleus with central clearing,”Orphan Annie eyes” Psammoma bodies, nuclear clearing, nuclear grooves, intranucear psudoinclsuions and psammoma bodies.
RET/PTC and BRAF mutations/
Follicular Carcinoma
Microfollicles with nuclear enlargement, overlapping and crowding,
overlapping follicular cells and microacinar architecture,
Vascular invasion; locally invasive, invades thyroid capsule
Hurtle cells, Invades into the local blood vessels, RAS and PAx8-PPAR-gamma, Invasive type cancer always think, Follicular carcinoma.
Anaplastic Carcinoma
RAS and P53 mutations, Very aggressive and has a poor prognosis, infiltration into local structure specially soft tissue of the neck, do not take up radio iodine –
Medullary thyroid carcinoma
C cell carcinoma, sheets of polygonal cells in an Amyloid storm.
Neuroendocrine appearance, “Packet” of uniform cells; Stroma made of amyloid, Derived from parafollicular cells or C cells; produce calcitonin.
Associated with MEN2 A and B and RET mutations, produces Calcintonin, RET mutations
Subacute thyroiditis
Granulomatous thyroiditis or De Quervains thyroiditis, often follows viral infection, Tender painful thyroid, pain in the Jaw, increased ESR
Fibrous Thyoriditis
Riedels thyroiditis, rare in patients in there 40s, normal thyroid tissue replaced by dense fibrosis, thyroid will be rock hard and fixed, can be associated with IgG 4 related systemic disease.
QT prolongation
Hypocalcemia and prolonged QT interval,
Hypospadias
Non-fusion of the urethral folds will result in this and it is the most common, in complete fusion of the urethral folds, an abnormal opening of the urethra proximal to the glands along the ventral shaft of the penis.
Trichomoniasis Vaginalis
Frothy Green vaginal discharge, flagellated protozoa, single celled parasite, pear or round shaped. Single- Celled parasite. Strawberry cervix. Can be seen on wet mount microscopy of vaginal discharge.
Metronidazole
Forms free radical metabolites in anaerobic organisms causing DNA breakage, inhibits nucleic acid synthesis and causes cell death