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A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report

Kallmann syndrome (KS) is a rare genetic disorder manifested by the combination of hypogonadotropic-hypogonadism and olfactory dysfunction. It is usually diagnosed at 14 - 16 years of age due to delayed puberty. However, delays in diagnosis have been reported in a few cases. We presented a 34-year-o...

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Autores principales: Aristiady, Eppy Buchori, Alberta, Desiree
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733469/
https://www.ncbi.nlm.nih.gov/pubmed/36523287
http://dx.doi.org/10.11604/pamj.2022.43.67.36802
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author Aristiady, Eppy Buchori
Alberta, Desiree
author_facet Aristiady, Eppy Buchori
Alberta, Desiree
author_sort Aristiady, Eppy Buchori
collection PubMed
description Kallmann syndrome (KS) is a rare genetic disorder manifested by the combination of hypogonadotropic-hypogonadism and olfactory dysfunction. It is usually diagnosed at 14 - 16 years of age due to delayed puberty. However, delays in diagnosis have been reported in a few cases. We presented a 34-year-old man presented with primary infertility as the chief complaint. Physical examination revealed bilateral gynecomastia, Tanner stage 2, and anosmia. Hormonal studies show a hypogonadotropic hypogonadism profile. Genetic testing revealed a normal male karyotype. Abdominal ultrasonography (USG) revealed a small prostate, and testicular USG demonstrated small testicles. Neuroimaging study revealed olfactory bulb agenesis and hypoplasia of the olfactory sulcus. Treatment was done by testosterone replacement therapy, and the patient is now on a regular follow-up. In conclusion, suspected clinical features of KS may guide the diagnosis with comprehensive hormonal and imaging studies. However, the reported patient was diagnosed extremely late.
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spelling pubmed-97334692022-12-14 A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report Aristiady, Eppy Buchori Alberta, Desiree Pan Afr Med J Case Report Kallmann syndrome (KS) is a rare genetic disorder manifested by the combination of hypogonadotropic-hypogonadism and olfactory dysfunction. It is usually diagnosed at 14 - 16 years of age due to delayed puberty. However, delays in diagnosis have been reported in a few cases. We presented a 34-year-old man presented with primary infertility as the chief complaint. Physical examination revealed bilateral gynecomastia, Tanner stage 2, and anosmia. Hormonal studies show a hypogonadotropic hypogonadism profile. Genetic testing revealed a normal male karyotype. Abdominal ultrasonography (USG) revealed a small prostate, and testicular USG demonstrated small testicles. Neuroimaging study revealed olfactory bulb agenesis and hypoplasia of the olfactory sulcus. Treatment was done by testosterone replacement therapy, and the patient is now on a regular follow-up. In conclusion, suspected clinical features of KS may guide the diagnosis with comprehensive hormonal and imaging studies. However, the reported patient was diagnosed extremely late. The African Field Epidemiology Network 2022-10-10 /pmc/articles/PMC9733469/ /pubmed/36523287 http://dx.doi.org/10.11604/pamj.2022.43.67.36802 Text en Copyright: Eppy Buchori Aristiady et al. https://creativecommons.org/licenses/by/4.0/The Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Aristiady, Eppy Buchori
Alberta, Desiree
A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report
title A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report
title_full A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report
title_fullStr A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report
title_full_unstemmed A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report
title_short A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report
title_sort rare case of a 34-year-old patient diagnosed late with kallmann syndrome: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733469/
https://www.ncbi.nlm.nih.gov/pubmed/36523287
http://dx.doi.org/10.11604/pamj.2022.43.67.36802
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