High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
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 neurologic...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-09-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12236 |
| _version_ | 1819129783897817088 |
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| author | Nicola Vitturi Livia Lenzini Concetta Luisi Miryam Carecchio Giorgia Gugelmo Francesco Francini‐Pesenti Angelo Avogaro |
| author_facet | Nicola Vitturi Livia Lenzini Concetta Luisi Miryam Carecchio Giorgia Gugelmo Francesco Francini‐Pesenti Angelo Avogaro |
| author_sort | Nicola Vitturi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T08:49:13Z |
| format | Article |
| id | doaj.art-63c13639999841ec97321e78fa369947 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-12-22T08:49:13Z |
| publishDate | 2021-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-63c13639999841ec97321e78fa3699472022-12-21T18:32:00ZengWileyJIMD Reports2192-83122021-09-01611485110.1002/jmd2.12236High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?Nicola Vitturi0Livia Lenzini1Concetta Luisi2Miryam Carecchio3Giorgia Gugelmo4Francesco Francini‐Pesenti5Angelo Avogaro6Division of Metabolic Diseases, Department of Medicine‐DIMED, University Hospital University of Padova Padova ItalyEmergency Medicine Unit, Department of Medicine‐DIMED, University Hospital University of Padova Padova ItalyDepartment of Neuroscience University of Padova Padova ItalyDepartment of Neuroscience University of Padova Padova ItalyDivision of Clinical Nutrition, Department of Medicine‐DIMED, University Hospital University of Padova Padova ItalyDivision of Clinical Nutrition, Department of Medicine‐DIMED, University Hospital University of Padova Padova ItalyDivision of Metabolic Diseases, Department of Medicine‐DIMED, University Hospital University of Padova Padova ItalyAbstract 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.https://doi.org/10.1002/jmd2.12236BH4DHPRdopamineprolactin |
| spellingShingle | Nicola Vitturi Livia Lenzini Concetta Luisi Miryam Carecchio Giorgia Gugelmo Francesco Francini‐Pesenti Angelo Avogaro High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology? JIMD Reports BH4 DHPR dopamine prolactin |
| title | High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology? |
| title_full | High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology? |
| title_fullStr | High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology? |
| title_full_unstemmed | High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology? |
| title_short | High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology? |
| title_sort | high prolactin levels in dihydropteridine reductase deficiency a sign of therapy failure or additional pathology |
| topic | BH4 DHPR dopamine prolactin |
| url | https://doi.org/10.1002/jmd2.12236 |
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