PMID- 37964948 OWN - NLM STAT- MEDLINE DCOM- 20231116 LR - 20240228 IS - 1664-2392 (Print) IS - 1664-2392 (Electronic) IS - 1664-2392 (Linking) VI - 14 DP - 2023 TI - Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia. PG - 1248231 LID - 10.3389/fendo.2023.1248231 [doi] LID - 1248231 AB - INTRODUCTION: The occurrence of prolactinomas in sex hormone treated patients with central hypogonadism is extremely rare. CASE PRESENTATION: We present a Caucasian male patient who was diagnosed with Kallmann syndrome (KS) at age 15 years. Testosterone treatment was started. At age 26 the patient presented with mild headache. MRI revealed two separate pituitary adenomas along with the absence of the olfactory bulbs. Given the presence of marked hyperprolactinemia (17x upper limit of the reference range) the diagnosis prolactinoma was made and treatment with cabergoline was started which resulted in a complete biochemical response and in marked reduction of both adenomas in size. Hypogonadism persisted and testosterone replacement therapy was continued. Genetic testing of genes associated with pituitary tumors, Kallmann syndrome and idiopathic hypogonadotropic hypogonadism was negative. Mild concomitant hypercalcemia in accordance with familial hypocalciuric hypercalcemia (FHH) prompted mutation analysis of the calcium receptor (CASR) gene which yielded a pathogenic inactivating variant. DISCUSSION/CONCLUSION: The presence of two separate prolactinomas in a patient with KS has not yet been reported in the literature. The effect of sex hormone treatment of KS patients on the possible development of prolactinoma is unknown at present. The occurance of multiple prolactinomas in our patient suggests increased susceptibility. Although CaSR is expressed in GnRH neurons in mouse brain and CaSR deficient mice have a reduced hypothalamic GnRH neuronal population, the relevance of the CASR gene variant in our patient for the KS phenotype is unclear at present. CI - Copyright (c) 2023 Jensterle, Janez, Vipotnik Vesnaver, Debeljak, Breznik, Trebusak Podkrajsek, Herman, Fliers, Battelino and Avbelj Stefanija. FAU - Jensterle, Mojca AU - Jensterle M AD - Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia. AD - Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. FAU - Janez, Andrej AU - Janez A AD - Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia. AD - Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. FAU - Vipotnik Vesnaver, Tina AU - Vipotnik Vesnaver T AD - Clinical Institute of Radiology, University Medical Centre Ljubljana, Ljubljana, Slovenia. FAU - Debeljak, Marusa AU - Debeljak M AD - Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. AD - Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. FAU - Breznik, Nika AU - Breznik N AD - Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. FAU - Trebusak Podkrajsek, Katarina AU - Trebusak Podkrajsek K AD - Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. AD - Institute of Biochemistry and Molecular Genetics, Medical Faculty, University of Ljubljana, Ljubljana, Slovenia. FAU - Herman, Rok AU - Herman R AD - Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia. AD - Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. FAU - Fliers, Eric AU - Fliers E AD - Department of Endocrinology and Metabolism, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands. FAU - Battelino, Tadej AU - Battelino T AD - Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. AD - Department of Paediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. FAU - Avbelj Stefanija, Magdalena AU - Avbelj Stefanija M AD - Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. AD - Department of Paediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20231030 PL - Switzerland TA - Front Endocrinol (Lausanne) JT - Frontiers in endocrinology JID - 101555782 RN - 33515-09-2 (Gonadotropin-Releasing Hormone) RN - 3XMK78S47O (Testosterone) RN - 0 (Gonadal Steroid Hormones) RN - Hypocalciuric hypercalcemia, familial, type 1 SB - IM MH - Humans MH - Male MH - Animals MH - Mice MH - Adolescent MH - Adult MH - *Hypercalcemia/diagnosis MH - *Kallmann Syndrome/complications/diagnosis/drug therapy MH - *Prolactinoma/complications/diagnosis/drug therapy MH - *Hypogonadism/diagnosis MH - *Hyperparathyroidism MH - Gonadotropin-Releasing Hormone MH - *Pituitary Neoplasms/complications/diagnosis/drug therapy MH - Testosterone MH - Gonadal Steroid Hormones PMC - PMC10642931 OTO - NOTNLM OT - Kallmann syndrome OT - familial hypocalciuric hypercalcemia OT - hypogonadism OT - prolactinoma OT - sex hormones COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2023/11/15 06:43 MHDA- 2023/11/16 06:44 PMCR- 2023/01/01 CRDT- 2023/11/15 04:13 PHST- 2023/06/26 00:00 [received] PHST- 2023/10/17 00:00 [accepted] PHST- 2023/11/16 06:44 [medline] PHST- 2023/11/15 06:43 [pubmed] PHST- 2023/11/15 04:13 [entrez] PHST- 2023/01/01 00:00 [pmc-release] AID - 10.3389/fendo.2023.1248231 [doi] PST - epublish SO - Front Endocrinol (Lausanne). 2023 Oct 30;14:1248231. doi: 10.3389/fendo.2023.1248231. eCollection 2023.