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Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognit...
Congenital Insensitivity to Pain with Anhidrosis (CIPA):A Case Report
Congenital Insensitivity Pain Anhidrosis Iran
2015/9/22
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder characterized by episodes of fever and the inability to sense of pain despite the fact that all other sensory modalities rema...
Effects of CO2 insensitivity and respiratory pattern on respiration in divers
human respiratory CO2 insensitivity carbon dioxide retainer
2009/7/16
In a study of respiratory function under hyperbaric conditions one diver (TM) was found to have an extremely low ventilatory response to exercise with a postinspiratory pause typical of certain "carbo...
The clinical and pathophysiologic features of AIS provide a human model for understanding the role of androgen and its receptor in the induction and maintenance of male sex differentiation and funct...
A Novel Androgen Receptor Mutation Resulting in Complete Androgen Insensitivity Syndrome and Bilateral Leydig Cell Hyperplasia
Androgens androgen receptor gene
2008/12/24
Androgens drive male secondary sexual differentiation and maturation. Mutations in the androgen receptor (AR) gene cause a broad spectrum of abnormal phenotypes in humans, ranging from mild throu...
CLINICAL AND HORMONAL MILIEU OF 9 PATIENTS WITH PRIMARY GROWTH HORMONE INSENSITIVITY SYNDROME AND THEIR RESPONSE TO IGF-I GENERATION TEST
Growth hormone insensitivity syndrome Type 1 Laron syndrome IGF-I generation test
2010/2/4
Primary growth hormone insensitivity syndrome (GHIS) is a rare entity which can be due to defects in growth hormone (GH) receptor that is called type 1 Laron syndrome (T1LS) or post receptor defects (...