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@ARTICLE{Yldz:277745,
      author       = {Y. Yıldız and O. Kuseyri Hübschmann and A. Akgöz
                      Karaosmanoğlu and F. Manti and M. Karaca and I. V. D.
                      Schwartz and R. Pons and E. López-Laso and N. A. J.
                      Palacios and F. Porta and I. Kavecan and M. C. Balcı and M.
                      E. Dy-Hollins and S.-N. Wong and M. Oppebøen and L. S.
                      Medeiros and L. C. P. de Paula and A. García-Cazorla and G.
                      F. Hoffmann and K. Jeltsch and V. Leuzzi and G. Gökçay and
                      D. Hübschmann$^*$ and I. Harting and Z. A. Özön and S.
                      Sivri and T. Opladen},
      title        = {{L}evodopa-refractory hyperprolactinemia and pituitary
                      findings in inherited disorders of biogenic amine
                      metabolism.},
      journal      = {Journal of inherited metabolic disease},
      volume       = {47},
      number       = {3},
      issn         = {0141-8955},
      address      = {Hoboken, NJ},
      publisher    = {Wiley},
      reportid     = {DKFZ-2023-01462},
      pages        = {431-446},
      year         = {2024},
      note         = {2024 May;47(3):431-446},
      abstract     = {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.},
      keywords     = {biogenic amines (Other) / hyperprolactinemia (Other) /
                      hypogonadism (Other) / neurotransmitter disorders (Other) /
                      prolactinoma (Other) / tetrahydrobiopterin (BH4) deficiency
                      (Other)},
      cin          = {HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)HD01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37452721},
      doi          = {10.1002/jimd.12658},
      url          = {https://inrepo02.dkfz.de/record/277745},
}