Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.6.1.1 (adenylate cyclase)
 19,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a boy aged 42 months, small stature, retarded psychomotor development, dry skin, excessive thirst, polyuria, cryptorchidism, and rickets were signs of multihormonal disturbances. Contrary to the clinical manifestations, laboratory investigations showed normal or raised levels of hormones (hGH, insulin, T3RU, T4, TSH, PTH). The cAMP level in the plasma was low and its urinary excretion was reduced. After administration of hGH, adrenaline, T3, T4, pitressin, vitamin D3 and aminophylline there was no rise in the cAMP concentration in plasma and urine. In the light of these results it may be assumed that deficient function of the adenyl cyclase system led to development of a clinical syndrome of tissue insensitivity to multiple hormonal factors in this case.
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PMID:Cyclic 3',5'-adenosine monophosphate (cAMP) in a 42-month-old child with clinical evidence of multiple hormonal disturbances. 22 75