Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome
Isolated corticotrope deficiency is a rare cause of secondary adrenocortical insufficiency. Its occurrence in patients with Down syndrome is exceptional. Herein, we report a case of an isolated corticotrope deficiency diagnosed at the age of 33 years in a woman with Down syndrome and discuss its pos...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-01-01
|
| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2021/5562831 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832555231046533120 |
|---|---|
| author | Ibtissem Oueslati Marwa Ben Jemaa Meriem Yazidi Fatma Chaker Melika Chihaoui |
| author_facet | Ibtissem Oueslati Marwa Ben Jemaa Meriem Yazidi Fatma Chaker Melika Chihaoui |
| author_sort | Ibtissem Oueslati |
| collection | DOAJ |
| description | Isolated corticotrope deficiency is a rare cause of secondary adrenocortical insufficiency. Its occurrence in patients with Down syndrome is exceptional. Herein, we report a case of an isolated corticotrope deficiency diagnosed at the age of 33 years in a woman with Down syndrome and discuss its possible mechanisms. A 33-year-old woman with Down syndrome was referred to our department for the investigation of low blood pressure. She complained of asthenia, dizziness, and palpitation with arterial hypotension for the past 4 years. The thyroid function was normal and anti-thyroperoxidase antibodies were negative. The peak of cortisol level in response to the insulin-induced hypoglycemia test was 9.4 μg/dl. ACTH level was normal, indicating corticotrope deficiency. Other pituitary hormones were normal. Magnetic resonance imaging scan revealed a partially empty sella turcica. Genetic analysis showed no mutations and no copy number variants of the TBX19 and NFKB2 genes. The mechanism of isolated corticotrope deficiency is unclear, but it may be induced by autoimmune mechanism in similar to other disorders of patients with Down syndrome. |
| format | Article |
| id | doaj-art-fa66aaab6a4e47c48fdbc5efc52147e1 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-fa66aaab6a4e47c48fdbc5efc52147e12025-02-03T05:49:18ZengWileyCase Reports in Endocrinology2090-65012090-651X2021-01-01202110.1155/2021/55628315562831Late-Onset Isolated Corticotrope Deficiency in a Woman with Down SyndromeIbtissem Oueslati0Marwa Ben Jemaa1Meriem Yazidi2Fatma Chaker3Melika Chihaoui4Department of Endocrinology, La Rabta University Hospital, University of Tunis-El Manar, Faculty of Medicine, Tunis, TunisiaDepartment of Endocrinology, La Rabta University Hospital, University of Tunis-El Manar, Faculty of Medicine, Tunis, TunisiaDepartment of Endocrinology, La Rabta University Hospital, University of Tunis-El Manar, Faculty of Medicine, Tunis, TunisiaDepartment of Endocrinology, La Rabta University Hospital, University of Tunis-El Manar, Faculty of Medicine, Tunis, TunisiaDepartment of Endocrinology, La Rabta University Hospital, University of Tunis-El Manar, Faculty of Medicine, Tunis, TunisiaIsolated corticotrope deficiency is a rare cause of secondary adrenocortical insufficiency. Its occurrence in patients with Down syndrome is exceptional. Herein, we report a case of an isolated corticotrope deficiency diagnosed at the age of 33 years in a woman with Down syndrome and discuss its possible mechanisms. A 33-year-old woman with Down syndrome was referred to our department for the investigation of low blood pressure. She complained of asthenia, dizziness, and palpitation with arterial hypotension for the past 4 years. The thyroid function was normal and anti-thyroperoxidase antibodies were negative. The peak of cortisol level in response to the insulin-induced hypoglycemia test was 9.4 μg/dl. ACTH level was normal, indicating corticotrope deficiency. Other pituitary hormones were normal. Magnetic resonance imaging scan revealed a partially empty sella turcica. Genetic analysis showed no mutations and no copy number variants of the TBX19 and NFKB2 genes. The mechanism of isolated corticotrope deficiency is unclear, but it may be induced by autoimmune mechanism in similar to other disorders of patients with Down syndrome.http://dx.doi.org/10.1155/2021/5562831 |
| spellingShingle | Ibtissem Oueslati Marwa Ben Jemaa Meriem Yazidi Fatma Chaker Melika Chihaoui Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome Case Reports in Endocrinology |
| title | Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome |
| title_full | Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome |
| title_fullStr | Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome |
| title_full_unstemmed | Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome |
| title_short | Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome |
| title_sort | late onset isolated corticotrope deficiency in a woman with down syndrome |
| url | http://dx.doi.org/10.1155/2021/5562831 |
| work_keys_str_mv | AT ibtissemoueslati lateonsetisolatedcorticotropedeficiencyinawomanwithdownsyndrome AT marwabenjemaa lateonsetisolatedcorticotropedeficiencyinawomanwithdownsyndrome AT meriemyazidi lateonsetisolatedcorticotropedeficiencyinawomanwithdownsyndrome AT fatmachaker lateonsetisolatedcorticotropedeficiencyinawomanwithdownsyndrome AT melikachihaoui lateonsetisolatedcorticotropedeficiencyinawomanwithdownsyndrome |