Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

Author:

Yıldız Yılmaz1ORCID,Kuseyri Hübschmann Oya2ORCID,Akgöz Karaosmanoğlu Ayça3ORCID,Manti Filippo4,Karaca Meryem5,Schwartz Ida Vanessa D.6ORCID,Pons Roser7,López‐Laso Eduardo8ORCID,Palacios Natalia Alexandra Julia9,Porta Francesco10ORCID,Kavecan Ivana11ORCID,Balcı Mehmet Cihan5,Dy‐Hollins Marisela E.12ORCID,Wong Suet‐Na13,Oppebøen Mari14ORCID,Medeiros Leonardo Simão6ORCID,de Paula Leila Cristina Pedroso15ORCID,García‐Cazorla Angeles9,Hoffmann Georg F.2ORCID,Jeltsch Kathrin2,Leuzzi Vincenzo4,Gökçay Gülden5ORCID,Hübschmann Daniel161718ORCID,Harting Inga19,Özön Z. Alev20ORCID,Sivri Serap1ORCID,Opladen Thomas2ORCID

Affiliation:

1. Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine Hacettepe University Ankara Turkey

2. Division of Child Neurology and Metabolic Disorders University Children's Hospital Heidelberg Heidelberg Germany

3. Department of Radiology, Faculty of Medicine Hacettepe University Ankara Turkey

4. Department of Human Neuroscience, Unit of Child Neurology and Psychiatry Università degli Studi di Roma La Sapienza Rome Italy

5. Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Istanbul Medical Faculty Istanbul University Istanbul Turkey

6. Department of Medical Genetics Hospital de Clínicas de Porto Alegre Porto Alegre RS Brazil

7. First Department of Pediatrics of the University of Athens Aghia Sofia Hospital Athens Greece

8. Pediatric Neurology Unit, Department of Pediatrics University Hospital Reina Sofía, IMIBIC and CIBERER Córdoba Spain

9. Inborn Errors of Metabolism Unit, Department of Neurology Institut de Recerca Sant Joan de Déu and CIBERER‐ISCIII Barcelona Spain

10. Department of Pediatrics AOU Città della Salute e della Scienza Torino Italy

11. Faculty of Medicine University of Novi Sad, Institute for Children and Youth Health Care of Vojvodina Novi Sad Serbia

12. Department of Neurology Massachusetts General Hospital, Harvard Medical School Boston Massachusetts USA

13. Department of Pediatrics and Adolescent Medicine The Hong Kong Children's Hospital Hong Kong SAR China

14. Division of Child Neurology, Children's Department Oslo University Hospital, Rikshospitalet Oslo Norway

15. Department of Endocrinology Hospital de Clínicas de Porto Alegre Porto Alegre RS Brazil

16. Computational Oncology Group, Molecular Precision Oncology Program National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ) Heidelberg Germany

17. Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI‐STEM) Heidelberg Germany

18. German Cancer Consortium (DKTK) Heidelberg Germany

19. Department of Neuroradiology University Hospital Heidelberg Heidelberg Germany

20. Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine Hacettepe University Ankara Turkey

Abstract

AbstractElevated 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.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Neurotransmitters … it is all about communication!;Journal of Inherited Metabolic Disease;2024-05

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