Male Infertility associated with a Novel Mutation in Carney Complex
Carney Complex (CNC) is a rare syndrome characterized by spotty skin pigmentation and multiple neoplasms, notably cardiac myxomas, schwannomas, and endocrine tumours. It is often inherited in an autosomal dominant manner with PRKAR1A gene mutations found in the majority of cases. Male infertility is...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2024-10-01
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| Series: | Clinical Medicine Insights: Endocrinology and Diabetes |
| Online Access: | https://doi.org/10.1177/11795514241293073 |
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| author | Maja Dimitrovska Dijana Plaseska-Karanfilska Jean K. Gogusev Tatjana Milenkovic Gjorgji Bozhinovski Cedomir Dimitrovski |
| author_facet | Maja Dimitrovska Dijana Plaseska-Karanfilska Jean K. Gogusev Tatjana Milenkovic Gjorgji Bozhinovski Cedomir Dimitrovski |
| author_sort | Maja Dimitrovska |
| collection | DOAJ |
| description | Carney Complex (CNC) is a rare syndrome characterized by spotty skin pigmentation and multiple neoplasms, notably cardiac myxomas, schwannomas, and endocrine tumours. It is often inherited in an autosomal dominant manner with PRKAR1A gene mutations found in the majority of cases. Male infertility is established as part of the CNC phenotype and is largely associated with Large cell calcifying Sertoli cell tumours (LCCSCT). We describe a case of a 30-year-old male patient with Carney Complex, presenting with severe oligoasthenozoospermia and primary pigmented nodular adrenocortical disease (PPNAD). During follow-up consults, the severe oligozoospermia and impaired semen motility persisted and the patient was also diagnosed with a recurring cardiac myxoma and LCCSCT. Molecular testing identified a novel PRKAR1A mutation involving a deletion of exons 4 to 7. Our findings suggest this mutation causes PRKAR1A haploinsufficiency, which may be directly linked to male infertility, irrespective of the presence of testicular tumours. Accordingly, in male patients with CNC, detection of a PRKAR1A gene mutation may serve as a predictive marker for infertility. This case report illustrates the importance of early consideration and management of infertility in male patients diagnosed with CNC. |
| format | Article |
| id | doaj-art-58151fa6ccde4d10a7b763772b4700c7 |
| institution | OA Journals |
| issn | 1179-5514 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Clinical Medicine Insights: Endocrinology and Diabetes |
| spelling | doaj-art-58151fa6ccde4d10a7b763772b4700c72025-08-20T02:09:08ZengSAGE PublishingClinical Medicine Insights: Endocrinology and Diabetes1179-55142024-10-011710.1177/11795514241293073Male Infertility associated with a Novel Mutation in Carney ComplexMaja Dimitrovska0Dijana Plaseska-Karanfilska1Jean K. Gogusev2Tatjana Milenkovic3Gjorgji Bozhinovski4Cedomir Dimitrovski5University Clinic of Endocrinology, Diabetes and Metabolic Disorders, Clinical Centre ‘Mother Teresa’, Skopje, North MacedoniaResearch Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, Macedonian Academy of Science and Arts, Skopje, North MacedoniaDepartment of Pathology, Hospital Necker-Enfants Malades, Paris, FranceUniversity Clinic of Endocrinology, Diabetes and Metabolic Disorders, Clinical Centre ‘Mother Teresa’, Skopje, North MacedoniaResearch Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, Macedonian Academy of Science and Arts, Skopje, North MacedoniaDepartment of Endocrinology, Acibadem Sistina Hospital, North MacedoniaCarney Complex (CNC) is a rare syndrome characterized by spotty skin pigmentation and multiple neoplasms, notably cardiac myxomas, schwannomas, and endocrine tumours. It is often inherited in an autosomal dominant manner with PRKAR1A gene mutations found in the majority of cases. Male infertility is established as part of the CNC phenotype and is largely associated with Large cell calcifying Sertoli cell tumours (LCCSCT). We describe a case of a 30-year-old male patient with Carney Complex, presenting with severe oligoasthenozoospermia and primary pigmented nodular adrenocortical disease (PPNAD). During follow-up consults, the severe oligozoospermia and impaired semen motility persisted and the patient was also diagnosed with a recurring cardiac myxoma and LCCSCT. Molecular testing identified a novel PRKAR1A mutation involving a deletion of exons 4 to 7. Our findings suggest this mutation causes PRKAR1A haploinsufficiency, which may be directly linked to male infertility, irrespective of the presence of testicular tumours. Accordingly, in male patients with CNC, detection of a PRKAR1A gene mutation may serve as a predictive marker for infertility. This case report illustrates the importance of early consideration and management of infertility in male patients diagnosed with CNC.https://doi.org/10.1177/11795514241293073 |
| spellingShingle | Maja Dimitrovska Dijana Plaseska-Karanfilska Jean K. Gogusev Tatjana Milenkovic Gjorgji Bozhinovski Cedomir Dimitrovski Male Infertility associated with a Novel Mutation in Carney Complex Clinical Medicine Insights: Endocrinology and Diabetes |
| title | Male Infertility associated with a Novel Mutation in Carney Complex |
| title_full | Male Infertility associated with a Novel Mutation in Carney Complex |
| title_fullStr | Male Infertility associated with a Novel Mutation in Carney Complex |
| title_full_unstemmed | Male Infertility associated with a Novel Mutation in Carney Complex |
| title_short | Male Infertility associated with a Novel Mutation in Carney Complex |
| title_sort | male infertility associated with a novel mutation in carney complex |
| url | https://doi.org/10.1177/11795514241293073 |
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