Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Por:
Yildiz Y, Kuseyri Hübschmann O, Akgöz Karaosmanoglu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Julià-Palacios NA, Porta F, Kavecan I, Balci MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, Garcia-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S and Opladen T
Publicada:
1 may 2024
Ahead of Print:
1 jul 2023
Resumen:
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents the results of the first standardized study on levodopa-refractory hyperprolactinemia (LRHP; >1000 mU/L) and pituitary magnetic resonance imaging (MRI) abnormalities in patients with inherited disorders of biogenic amine metabolism. Twenty-six individuals had LRHP or abnormal pituitary findings on MRI. Tetrahydrobiopterin deficiencies were the most common diagnoses (n = 22). The median age at diagnosis of LRHP was 16 years (range: 2.5-30, 1st-3rd quartiles: 12.25-17 years). Twelve individuals (nine females) had symptoms attributed to hyperprolactinemia: menstruation-related abnormalities (n = 7), pubertal delay or arrest (n = 5), galactorrhea (n = 3), and decreased sexual functions (n = 2). MRI of the pituitary gland was obtained in 21 individuals; six had heterogeneity/hyperplasia of the gland, five had adenoma, and 10 had normal findings. Eleven individuals were treated with the dopamine agonist cabergoline, ameliorating the hyperprolactinemia-related symptoms in all those assessed. Routine monitoring of these symptoms together with prolactin concentrations, especially after the first decade of life, should be taken into consideration during follow-up evaluations. The potential of slow-release levodopa formulations and low-dose dopamine agonists as part of first-line therapy in the prevention and treatment of hyperprolactinemia should be investigated further in animal studies and human trials. This work adds hyperprolactinemia-related findings to the current knowledge of the phenotypic spectrum of inherited disorders of biogenic amine metabolism.
Filiaciones:
Yildiz Y:
Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Kuseyri Hübschmann O:
University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany
Akgöz Karaosmanoglu A:
Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Manti F:
Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy
Karaca M:
Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
Schwartz IVD:
Department of Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil
Pons R:
First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece
López-Laso E:
Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain
Julià-Palacios NA:
Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain
Porta F:
Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy
Kavecan I:
Faculty of Medicine, University of Novi Sad, Institute for Children and Youth Health Care of Vojvodina, Novi Sad, Serbia
Balci MC:
Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
Dy-Hollins ME:
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
Wong SN:
Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China
Oppebøen M:
Division of Child Neurology, Children's Department, Oslo University Hospital, Rikshospitalet, Oslo, Norway
Medeiros LS:
Department of Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil
de Paula LCP:
Department of Endocrinology, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil
Garcia-Cazorla A:
Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain
Hoffmann GF:
University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany
Jeltsch K:
University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany
Leuzzi V:
Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy
Gökçay G:
Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
Hübschmann D:
Computational Oncology Group, Molecular Precision Oncology Program, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), Heidelberg, Germany
Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany
German Cancer Consortium (DKTK), Heidelberg, Germany
Harting I:
Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany
Özön ZA:
Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Sivri S:
Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Opladen T:
University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany
Green Submitted, hybrid
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