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Agranulocytosis, also known as agranulosis or granulopenia, is an acute condition involving a severe and dangerous lowered white blood cell count (leukopenia, most commonly of neutrophils) and thus causing neutropenia in the circulating blood. [1] It is a severe lack of one major class of infection-fighting white blood cells.
Men and women exhibit different symptoms for hypergonadism. A few of the symptoms that men can experience are increased sex drive, early balding, excessive muscle mass, and acne. Women can have symptoms such as, increased growth of facial hair, deepened voice, coarse body hair, and an irregular menstrual cycle. [5]
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. [1]
Pituitary tumor in MEN1 can be large and cause signs by compressing adjacent tissues. Pancreatic tumors associated with MEN-1 usually form in the beta cells of the islets of Langerhans, causing over-secretion of insulin, resulting in low blood glucose levels (hypoglycemia). However, many other tumors of the pancreatic Islets of Langerhans can ...
Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, [1] is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. [2]
Multiple endocrine neoplasia type 2B (MEN 2B) is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands. It is the most severe type of multiple endocrine neoplasia , [ 2 ] differentiated by the presence of benign oral and submucosal tumors in addition to endocrine malignancies.
Lack of testicle development in men (size < 4 ml, whereas the normal range is between 12 and 25 ml). [2] Primary amenorrhoea (failure to start menstruation). [8] Poorly defined secondary sexual characteristics. [3] Micropenis in 5-10% of male cases. [2] Cryptorchidism (undescended testicles) at birth. [2] Low levels of the gonadotropins LH and ...
These autosomal dominant mutations cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood-forming, lympathic-forming, and other tissue-forming stem cells. In consequence of these ...