| ASMD | anterior segment mesenchymal dysgenesis; atonic sclerotic muscle dystrophy |
|---|---|
| ASOD | anterior segmental ocular dysgenesis |
| FDTS | familial testicular dysgenesis syndrome |
| GD | gastroduodenal; Gaucher disease; general diagnostics; general dispensary; gestational day; Gianotti ... |
| GDXY | XY gonadal dysgenesis |
| GD | Gonadal dysgenesis |
|---|---|
| MGD | Mixed gonadal dysgenesis |
| mdg | Muscular dysgenesis |
| RTD | Renal tubular dysgenesis |
| CCT | Combined cortical thickness |
cortical evoked potential (ÇÇÁú À¯¹ß ÀüÀ§
| gonadal dysgenesis | <embryology, genetics> A rare genetic disorder in women that is characterised by the absence of an X chromosome. This disorder inhibits normal sexual development and causes infertility. Features include webbing of the neck, short stature, retarded development of secondary sex characteristics, absence of menses, coarctation of the aorta, low hairline, eye abnormalities (drooping eyelids) and skeletal deformities. Treatment include oestrogen supplementation at puberty. Growth hormone replacement may be necessary in some cases. Cardiac surgery may be necessary to correct coarctation of the aorta. Incidence: 1 in 3,000 births. (10 Oct 1997) |
|---|---|
| gonadal dysgenesis, 46,xy | A syndrome characterised by "streak gonads" in a phenotypic female with a 46,xy karyotype. It is due to a mutation which inhibits the function of the y-borne determinant that would normally cause the indifferent embryonic gonad to differentiate into a testis. The streak gonad is incapable of ovulation or oestrogen secretion. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to the presence of streak gonads with a 46,xx karyotype. (12 Dec 1998) |
| gonadal dysgenesis, mixed | A syndrome of gonadal dysgenesis in which there is a testis on one side and a "streak gonad" on the other. The phenotype is generally male, but may be female since the individual is a mosaic. Various karyotypes have been identified, including 45,xo/47,xyy; 45,xo/46,xy; and 45,xo/46,xyo. (12 Dec 1998) |
| seminiferous tubule dysgenesis | A disorder in which the seminiferous tubules exhibit an abnormal cytoarchitecture and extensive hyalinization; the testes are small, and few spermatozoa are formed; the body habitus may be eunuchoid, and gynaecomastia may be present; urinary gonadotropin output is usually high, and the incidence of mental deficiency and illness increased; sex chromatin may be male or female, and androgen secretion ranges from subnormal to normal. It is a constant feature of (and is often used synonymously with) Klinefelter's syndrome. Synonym: germinal aplasia. (05 Mar 2000) |
| hybrid dysgenesis | The inability of certain strains of the fruit fly Drosophila melanogaster to interbreed with each other because they produce offspring that are all sterile or offspring which have a high number of harmful mutations. (09 Oct 1997) |
| dysgenesis | Defective development. (18 Nov 1997) |
| iridocorneal mesodermal dysgenesis | Mesodermal dysgenesis of cornea and iris, producing pupillary anomalies, posterior embryotoxon, and secondary glaucoma. Synonym: Rieger's anomaly. (05 Mar 2000) |
| testicular dysgenesis | A congenital derangement of seminiferous tubular structure and function, resulting in male infertility; the defect in spermatogenesis may be incomplete, as in maturational arrest or premature sloughing, or spermatogenesis may be completely absent, as in the Sertoli-cell-only syndrome. (05 Mar 2000) |
| adenoma, adrenal cortical | A benign neoplasm of adrenal cortical cells resembling normal adrenal cells histologically but possessing functional autonomy. In general it does not exceed 5 cm in its largest dimension, although benign tumours exceeding 20 cm have been reported. Adrenal cortical adenomas produce hypercortisolism and hyperaldosteronism, but seldom produce adrenogenital syndromes. For the most part the prognosis after surgery is reasonably favourable. (12 Dec 1998) |
| adrenal cortical carcinomas | Large invasive and metastasizing tumours which may cause virilism or Cushing's syndrome. (05 Mar 2000) |
| adrenal cortical syndrome | <syndrome> An inexact (and obsolete) term that has been applied to Cushing's syndrome, Addison's disease, or the adrenogenital syndrome. (05 Mar 2000) |
| blindness, cortical | Total loss of vision in all or part of the visual field due to a lesion in the striate area, characterised by the patient's subjective unawareness of his disability and the absence of cortical functions of vision, with the subcortical functions intact. (12 Dec 1998) |
| carcinoma, adrenal cortical | A malignant neoplasm of adrenal cortical cells demonstrating partial or complete histological and functional differentiation. They are rare, comprising between only 0.05% and 0.2% of all cancers. Women develop functional adrenal cortical carcinomas more commonly than men, but men develop nonfunctioning ones more often than women. Hypercortisolism is the most common presentation for this cancer. Virilism and cushing's syndrome may also result. (12 Dec 1998) |
| generalised cortical hyperostosis | <syndrome> An inherited skeletal dysplasia, with mandibular enlargement and thickening of the diaphyses and calvaria, and increased serum alkaline phosphatase; autosomal recessive inheritance. Synonym: generalised cortical hyperostosis. (05 Mar 2000) |
| renal cortical adenoma | <tumour> One of the usually small adenoma's sometimes found in the renal cortex and derived from renal tubular tissue. (05 Mar 2000) |
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