High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?. Issue 1 (29th June 2021)

• Record Type: Journal Article
• Authors: Vitturi, Nicola; Lenzini, Livia; Luisi, Concetta; Carecchio, Miryam; Gugelmo, Giorgia; Francini‐Pesenti, Francesco; Avogaro, Angelo
• Is Part Of: JIMD reports. Volume 61:Issue 1(2021)
• Page Start: 48
• Page End: 51
• Publication Date: 2021-06-29
• Subjects: BH4 -- DHPR -- dopamine -- prolactin; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jmd2.12236
• Languages: English
• ISSNs: 2192-8304

Abstract

Abstract: We report the case of a 22‐year‐old man with a diagnosis of dihydropteridine reductase (DHPR) deficiency who progressively developed movement disorders and epilepsy. Despite L‐Dopa supplementation the patient continued to show high prolactin levels, with a discrepancy between the neurological clinical picture and the hormonal biochemical levels. For this reason, other potential causes were ruled out by performing a cerebral magnetic resonance imaging, which demonstrated a solid lesion in the pituitary gland strongly suggestive of a prolactinoma. As the association between metabolic disorders affecting biogenic amine synthesis and prolactinoma has not been previously reported in humans, this report suggests that a critical evaluation of the use of prolactin as a guide for therapy dosage should be made in patients with DHPR deficiency disorders.