Open AccessHigh prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
Author(s) -
Vitturi Nicola,
Lenzini Livia,
Luisi Concetta,
Carecchio Miryam,
Gugelmo Giorgia,
FranciniPesenti Francesco,
Avogaro Angelo
Publication year - 2021
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12236
Subject(s) - prolactin , prolactinoma , medicine , magnetic resonance imaging , lesion , epilepsy , subclinical infection , tetrahydrobiopterin , endocrinology , hormone , pediatrics , pathology , physiology , radiology , psychiatry , nitric oxide synthase , nitric oxide
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.