Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series
<h3>Background</h3><p dir="ltr">Hypogonadism in older men is often considered as late onset hypogonadism. However, this clinical condition results from primary testicular failure which could be of genetic origin with Klinefelter syndrome being the most common chromosomal...
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| مؤلفون آخرون: | , , , , , |
| منشور في: |
2023
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| _version_ | 1864513526885777408 |
|---|---|
| author | Tarik Elhadd (5480393) |
| author2 | Ahmad Majzoub (14058045) Charlotte Wilson (3466343) Laura McCreight (18001624) Muna S. Mohamed (18001627) Fiona C. Green (18001630) Andrew J. Collier (18001633) |
| author2_role | author author author author author author |
| author_facet | Tarik Elhadd (5480393) Ahmad Majzoub (14058045) Charlotte Wilson (3466343) Laura McCreight (18001624) Muna S. Mohamed (18001627) Fiona C. Green (18001630) Andrew J. Collier (18001633) |
| author_role | author |
| dc.creator.none.fl_str_mv | Tarik Elhadd (5480393) Ahmad Majzoub (14058045) Charlotte Wilson (3466343) Laura McCreight (18001624) Muna S. Mohamed (18001627) Fiona C. Green (18001630) Andrew J. Collier (18001633) |
| dc.date.none.fl_str_mv | 2023-05-17T06:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1186/s12902-023-01359-6 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Hypergonadotropic_hypogonadism_and_chromosomal_aberrations_clinical_heterogeneity_and_implications_on_the_health_of_elderly_men_case_series/25256659 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biomedical and clinical sciences Clinical sciences Male hypogonadism Chromosomal abnormalities Elderly Hypergonadotropic hypogonadism |
| dc.title.none.fl_str_mv | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Background</h3><p dir="ltr">Hypogonadism in older men is often considered as late onset hypogonadism. However, this clinical condition results from primary testicular failure which could be of genetic origin with Klinefelter syndrome being the most common chromosomal abnormality associated with it.</p><h3>Case presentation</h3><p dir="ltr">We report a heterogeneous group of cases who were diagnosed with hypergonadotropic hypogonadism in their adulthood and were found to have rare chromosomal aberrations. All were elderly men (in their 70 s and 80 s) for whom the diagnosis was made during the evaluation of incidental symptoms suggestive of endocrinopathy. The first had hyponatremia; the other two had gynaecomastia and features of hypogonadism noted during admission for various acute medical problems. With respect to their genetic results; the first had a male karyotype with balanced reciprocal translocation between the long arm of chromosome 4 and the short arm of chromosome 7. The second case had a male karotype with one normal X chromosome and an isochrome for the short arm of the Y chromosome. The third case was an XX male with unbalanced translocation between the X & Y chromosomes with retention of the SRY locus.</p><h3>Conclusion</h3><p dir="ltr">Hypergonadotrophic hypogonadism in the elderly, may be due to chromosomal aberrations, resulting in heterogeneous and diverse clinical phenotypes. Vigilance must be exercised when seeing cases with subtle clinical findings. This report suggests that in selected cases of adult hypergonadotropic hypogonadism, chromosomal analysis may be indicated.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Endocrine Disorders<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12902-023-01359-6" target="_blank">https://dx.doi.org/10.1186/s12902-023-01359-6</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_8d75ca1b67fecb53b6ce654653ca3d77 |
| identifier_str_mv | 10.1186/s12902-023-01359-6 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25256659 |
| publishDate | 2023 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case seriesTarik Elhadd (5480393)Ahmad Majzoub (14058045)Charlotte Wilson (3466343)Laura McCreight (18001624)Muna S. Mohamed (18001627)Fiona C. Green (18001630)Andrew J. Collier (18001633)Biomedical and clinical sciencesClinical sciencesMale hypogonadismChromosomal abnormalitiesElderlyHypergonadotropic hypogonadism<h3>Background</h3><p dir="ltr">Hypogonadism in older men is often considered as late onset hypogonadism. However, this clinical condition results from primary testicular failure which could be of genetic origin with Klinefelter syndrome being the most common chromosomal abnormality associated with it.</p><h3>Case presentation</h3><p dir="ltr">We report a heterogeneous group of cases who were diagnosed with hypergonadotropic hypogonadism in their adulthood and were found to have rare chromosomal aberrations. All were elderly men (in their 70 s and 80 s) for whom the diagnosis was made during the evaluation of incidental symptoms suggestive of endocrinopathy. The first had hyponatremia; the other two had gynaecomastia and features of hypogonadism noted during admission for various acute medical problems. With respect to their genetic results; the first had a male karyotype with balanced reciprocal translocation between the long arm of chromosome 4 and the short arm of chromosome 7. The second case had a male karotype with one normal X chromosome and an isochrome for the short arm of the Y chromosome. The third case was an XX male with unbalanced translocation between the X & Y chromosomes with retention of the SRY locus.</p><h3>Conclusion</h3><p dir="ltr">Hypergonadotrophic hypogonadism in the elderly, may be due to chromosomal aberrations, resulting in heterogeneous and diverse clinical phenotypes. Vigilance must be exercised when seeing cases with subtle clinical findings. This report suggests that in selected cases of adult hypergonadotropic hypogonadism, chromosomal analysis may be indicated.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Endocrine Disorders<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12902-023-01359-6" target="_blank">https://dx.doi.org/10.1186/s12902-023-01359-6</a></p>2023-05-17T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1186/s12902-023-01359-6https://figshare.com/articles/journal_contribution/Hypergonadotropic_hypogonadism_and_chromosomal_aberrations_clinical_heterogeneity_and_implications_on_the_health_of_elderly_men_case_series/25256659CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/252566592023-05-17T06:00:00Z |
| spellingShingle | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series Tarik Elhadd (5480393) Biomedical and clinical sciences Clinical sciences Male hypogonadism Chromosomal abnormalities Elderly Hypergonadotropic hypogonadism |
| status_str | publishedVersion |
| title | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series |
| title_full | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series |
| title_fullStr | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series |
| title_full_unstemmed | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series |
| title_short | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series |
| title_sort | Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series |
| topic | Biomedical and clinical sciences Clinical sciences Male hypogonadism Chromosomal abnormalities Elderly Hypergonadotropic hypogonadism |