Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl

Pediatric Research
R BirnbacherF Waldhauser

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 p...Continue Reading

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Citations

Sep 15, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Emmanuel RozeAnne Roubergue
Jun 29, 1999·The Journal of Laboratory and Clinical Medicine·A ParraG J Ruiz-Argüelles
Apr 26, 2006·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Adalberto ParraGuillermo J Ruiz-Argüelles
Feb 25, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Francesco PortaMarco Spada
Jan 6, 2004·Medicinal Research Reviews·Alberto PonzoneLuisa de Sanctis
Dec 22, 2006·Expert Review of Anti-infective Therapy·Charles E RupprechtDennis Slate
May 28, 2020·Orphanet Journal of Rare Diseases·Thomas OpladenUNKNOWN International Working Group on Neurotransmitter related Disorders (iNTD)

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