| pain insensitivity, congenital | Absence of sensibility to pain or inability to feel pain. The condition is present at birth. (12 Dec 1998) |
|---|---|
| congenital insensitivity to pain | <radiology> Autosomal recessive, neuropathic joints, micro- and macrofractures, epiphyseal separation, osteomyelitis (mandible, fingers, toes) Differential diagnosis: congenital insensitivity to pain with anhidrosis (autosomal recessive), hereditary sensory radicular neuropathy (autosomal recessive), congenital sensory neuropathy (autosomal dominant), familial dysautonomia (autosomal recessive), Lesch-Nyhan syndrome (X recessive) (12 Dec 1998) |
| adrenal androgen | Any androgenic hormone of adrenocortical origin; e.g., dehydroepiandrosterone (and its sulfate), androstenedione, 11b-hydroxyandrostenedione. (05 Mar 2000) |
| adrenal androgen-stimulating hormone | A putative pituitary hormone that may be responsible for increased secretion of adrenal androgens at the time of puberty. (05 Mar 2000) |
| androgen | <endocrinology> General term for any male sex hormone in vertebrates. Androgens may be used in patients with breast cancer to treat recurrence of the disease. (14 May 1997) |
| androgen antagonists | Compounds which inhibit or antagonise the biosynthesis or actions of androgens. (12 Dec 1998) |
| androgen binding protein | A protein secreted by testicular Sertoli cells along with inhibin and mullerian inhibiting substance. Androgen binding protein probably maintains a high concentration of androgen in the seminiferous tubules. (05 Mar 2000) |
| androgen-binding proteins | Carrier proteins produced in the sertoli cells of the testis, secreted into the seminiferous tubules, and transported via the efferent ducts to the epididymis. Participate in the transport of androgens; include also synthetic androgens binding proteins. (12 Dec 1998) |
| androgen-dependent secretory protease | <enzyme> Glycoprotein from dog prostate; hydrolyzes arginine and lysine-containing amide and ester protease substrates Registry number: EC 3.4.99.- Synonym: ads-protease (26 Jun 1999) |
| androgen resistance syndromes | A class of disorders associated with 5a-steroid reductase deficiency, testicular feminization, and related disorders. Compare: steroid 5a-reductase, Reifenstein's syndrome, infertile male syndrome, testicular feminization syndrome. (05 Mar 2000) |
| androgen unit | The androgenic activity of 100 ug (0.1 mg) of crystalline androsterone as assayed by the comb growth response in capons. (05 Mar 2000) |
| receptors, androgen | Proteins, generally found in the cytoplasm, that specifically bind androgens and mediate their cellular actions. The complex of the androgen and receptor migrates to the nucleus where it induces transcription of specific segments of DNA. (12 Dec 1998) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |