Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family
Introduction. Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion in AIP, aiming to highlight the indications and benefits of genetic screening, variab...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2018/8581626 |
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| author | Pedro Marques Sayka Barry Amy Ronaldson Arla Ogilvie Helen L. Storr Peter J. Goadsby Michael Powell Mary N. Dang Harvinder S. Chahal Jane Evanson Ajith V. Kumar Joan Grieve Márta Korbonits |
| author_facet | Pedro Marques Sayka Barry Amy Ronaldson Arla Ogilvie Helen L. Storr Peter J. Goadsby Michael Powell Mary N. Dang Harvinder S. Chahal Jane Evanson Ajith V. Kumar Joan Grieve Márta Korbonits |
| author_sort | Pedro Marques |
| collection | DOAJ |
| description | Introduction. Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion in AIP, aiming to highlight the indications and benefits of genetic screening, variability in clinical presentations, and management challenges in this setting. Patients. An 18-year-old male was diagnosed with a clinically nonfunctioning pituitary adenoma (NFPA). Two years later, his brother was diagnosed with a somatolactotrophinoma, and a small Rathke’s cleft cyst and a microadenoma were detected on screening in their 17-year-old sister. Following amenorrhoea, their maternal cousin was diagnosed with hyperprolactinaemia and two distinct pituitary microadenomas. A 12-year-old niece developed headache and her MRI showed a microadenoma, not seen on a pituitary MRI scan 3 years earlier. Discussion. Out of the 14 members harbouring germline AIP mutations in this kindred, 5 have pituitary adenoma. Affected members had different features and courses of disease. Bulky pituitary and not fully suppressed GH on OGTT can be challenging in the evaluation of females in teenage years. Multiple pituitary adenomas with different secretory profiles may arise in the pituitary of these patients. Small, stable NFPAs can be present in mutation carriers, similar to incidentalomas in the general population. Genetic screening and baseline review, with follow-up of younger subjects, are recommended in AIP mutation-positive families. |
| format | Article |
| id | doaj-art-fe4e9a88f40a4a32a75a926983efab79 |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-fe4e9a88f40a4a32a75a926983efab792025-02-03T01:00:36ZengWileyInternational Journal of Endocrinology1687-83371687-83452018-01-01201810.1155/2018/85816268581626Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive FamilyPedro Marques0Sayka Barry1Amy Ronaldson2Arla Ogilvie3Helen L. Storr4Peter J. Goadsby5Michael Powell6Mary N. Dang7Harvinder S. Chahal8Jane Evanson9Ajith V. Kumar10Joan Grieve11Márta Korbonits12Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKWest Hertfordshire Hospitals NHS Trust, Watford, UKCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKBasic & Clinical Neuroscience and NIHR-Wellcome Trust King’s Clinical Research Facility, King’s College London, London, UKThe National Hospital for Neurology and Neurosurgery, UCLH, NHS Trust, London, UKCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKDepartment of Endocrinology, Imperial College Healthcare NHS Trust, London, UKDepartment of Radiology, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UKNorth East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UKThe National Hospital for Neurology and Neurosurgery, UCLH, NHS Trust, London, UKCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKIntroduction. Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion in AIP, aiming to highlight the indications and benefits of genetic screening, variability in clinical presentations, and management challenges in this setting. Patients. An 18-year-old male was diagnosed with a clinically nonfunctioning pituitary adenoma (NFPA). Two years later, his brother was diagnosed with a somatolactotrophinoma, and a small Rathke’s cleft cyst and a microadenoma were detected on screening in their 17-year-old sister. Following amenorrhoea, their maternal cousin was diagnosed with hyperprolactinaemia and two distinct pituitary microadenomas. A 12-year-old niece developed headache and her MRI showed a microadenoma, not seen on a pituitary MRI scan 3 years earlier. Discussion. Out of the 14 members harbouring germline AIP mutations in this kindred, 5 have pituitary adenoma. Affected members had different features and courses of disease. Bulky pituitary and not fully suppressed GH on OGTT can be challenging in the evaluation of females in teenage years. Multiple pituitary adenomas with different secretory profiles may arise in the pituitary of these patients. Small, stable NFPAs can be present in mutation carriers, similar to incidentalomas in the general population. Genetic screening and baseline review, with follow-up of younger subjects, are recommended in AIP mutation-positive families.http://dx.doi.org/10.1155/2018/8581626 |
| spellingShingle | Pedro Marques Sayka Barry Amy Ronaldson Arla Ogilvie Helen L. Storr Peter J. Goadsby Michael Powell Mary N. Dang Harvinder S. Chahal Jane Evanson Ajith V. Kumar Joan Grieve Márta Korbonits Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family International Journal of Endocrinology |
| title | Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family |
| title_full | Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family |
| title_fullStr | Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family |
| title_full_unstemmed | Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family |
| title_short | Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family |
| title_sort | emergence of pituitary adenoma in a child during surveillance clinical challenges and the family members view in an aip mutation positive family |
| url | http://dx.doi.org/10.1155/2018/8581626 |
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