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Evolution and natural selection
Independent assortment of genes and linkage
Mendelian genetics and punnett squares
Alagille syndrome (NORD)
Familial adenomatous polyposis
Multiple endocrine neoplasia
Polycystic kidney disease
Treacher Collins syndrome
von Hippel-Lindau disease
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Cri du chat syndrome
Fragile X syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Ornithine transcarbamylase deficiency
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
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MEN 1 (Multiple Endocrine Neoplasia)
MEN 2A (Multiple Endocrine Neoplasia)
MEN 2B (Multiple Endocrine Neoplasia)
Multiple Endocrine Neoplasia (MEN)
The multiple endocrine neoplasias, or MEN for short, are a group of inherited diseases which cause tumors to grow in the endocrine glands of the body.
The endocrine glands affected in multiple endocrine neoplasia are the pituitary gland, the thyroid gland, the parathyroid glands, the adrenal glands and the pancreas.
So in multiple endocrine neoplasias there are tumors that form in these glands that lead to overproduction of hormones.
Let’s start by going through the glands that are affected and what they do.
The pituitary gland is a pea-sized gland found at the base of the brain that makes hormones to control many of the other endocrine glands in the body.
These hormones include thyroid stimulating hormone which acts on the thyroid to make thyroid hormone, adrenal corticotropic hormone that acts on the adrenal glands to make cortisol, follicle stimulating hormone and luteinizing hormone which acts on the ovaries and testes to make estrogen in women and testosterone in men.
So it’s like the king of the endocrine glands telling them how much hormone to produce.
The pituitary also makes growth hormone which makes you grow, prolactin which stimulates milk production in women, oxytocin which triggers milk release, antidiuretic hormone which help the kidneys reabsorb water, and melanocyte stimulating hormone helps the melanocytes create more melanin or pigment.
Multiple endocrine neoplasias, or MEN for short, are a group of inherited diseases that cause tumors to grow in the endocrine glands of the body. MEN tumors are classified into two broad categories based on their underlying mutations. There is MEN1 caused by a mutation in the MEN1 gene, and MEN2, which is caused by a mutation in the RET gene.
People with MEN1 present with tumors in the pituitary gland or parathyroid glands and pancreatic tumors. MEN2 is further divided into two subtypes: MEN2A and MEN2B. MEN2A is characterized by medullary thyroid cancer, pheochromocytoma, and parathyroid tumors; whereas MEN2B presents with medullary thyroid cancer, pheochromocytoma, and mucosal neuromas.
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