title: Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl.
abstract: Severe tetrahydrobiopterin (BH4) deficiency is a naturally occurring model of cerebral catecholamine and serotonin shortage. Examination of the stimulated release and physiologic secretion pattern of several hormones in affected individuals permits certain conclusions concerning the involvement of these neurotransmitters in hormone regulation. Treatment, moreover, permits the ranking of the quality of the therapeutic regimens in use according to the degree of hormonal alteration. The 24-h secretion pattern of prolactin, GH, cortisol, and melatonin and the stimulated release of prolactin, GH, TSH, and gonadotropins were studied in an affected girl. Severe hyperprolactinemia with disruption of the pulsatile and circadian secretion pattern was the prevailing feature. The GH physiologic secretion pattern was not affected, but its stimulation was impaired. Melatonin displayed a normal circadian secretion pattern; the rhythm, however, was advanced by several hours. Conventional treatment of BH4 deficiency, i.e. BH4, 5-hydroxytryptophan, and L-DOPA/carbidopa (the last named given in three doses per day), suppresses prolactin levels merely for a few hours. L-DOPA/carbidopa given at shorter intervals or, even better, as a slow release preparation, is more effective in suppressing prolactin levels. Our data indicate immense hyperprolactinemia but few other hormonal disturbances in severe BH4 deficiency. Prolactin secretion may serve as an extremely sensitive marker for the hypothalamic dopamine content under different therapeutic regimens. Treatment with an L-DOPA/carbidopa slow release preparation produces virtually normal prolactin levels.
authors.affiliation: Department of Pediatrics, University of Vienna, Austria.
authors.forename: R
authors.initials: R
authors.lastname: Birnbacher
authors.forename: S
authors.initials: S
authors.lastname: Scheibenreiter
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: C
authors.initials: C
authors.lastname: Bieglmayer
authors.forename: H
authors.initials: H
authors.lastname: Frisch
authors.forename: F
authors.initials: F
authors.lastname: Waldhauser
mesh_terms: D000293:Adolescent; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D002230:Carbidopa / Q000627:therapeutic use; D003692:Delayed-Action Preparations / Q000627:therapeutic use; D004338:Drug Combinations; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D019382:Human Growth Hormone; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006966:Hyperprolactinemia / Q000097:blood / Q000150:complications; D007328:Insulin; D007980:Levodopa / Q000627:therapeutic use; D007986:Luteinizing Hormone / Q000097:blood; D008550:Melatonin / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000150:complications / Q000628:therapy*; D019761:Phosphorus-Oxygen Lyases / Q000172:deficiency*; D011388:Prolactin / Q000097:blood*
chemical_list: D003692:Delayed-Action Preparations; D004338:Drug Combinations; D007328:Insulin; C009265:carbidopa, levodopa drug combination; D019382:Human Growth Hormone; D001708:Biopterins; D007980:Levodopa; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase; C003402:sapropterin; D008550:Melatonin; D002230:Carbidopa; D006854:Hydrocortisone