Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review
Despite the relatively small portion in the structure of the infertility causes, hypergonadotropic hypogonadism (HH) is one of the greatest challenges in reproductive medicine. Diagnosis of HH chromosomal causes often occurs with a significant delay. This is due to the widespread stereotype of the n...
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| Format: | Article |
| Language: | English |
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Publishing House TRILIST
2020-07-01
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| Series: | Репродуктивная эндокринология |
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| Online Access: | http://reproduct-endo.com/article/view/207736 |
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| author | О. А. Бурка Л. П. Кузьмук Г.О. Ісламова С. В. Овчаренко |
| author_facet | О. А. Бурка Л. П. Кузьмук Г.О. Ісламова С. В. Овчаренко |
| author_sort | О. А. Бурка |
| collection | DOAJ |
| description | Despite the relatively small portion in the structure of the infertility causes, hypergonadotropic hypogonadism (HH) is one of the greatest challenges in reproductive medicine. Diagnosis of HH chromosomal causes often occurs with a significant delay. This is due to the widespread stereotype of the necessary presence of typical phenotypic characters (eunuchoid habitus, pterygoid folds on the neck). This review deals with clinical recommendations for diagnosis of the most common chromosomal causes of HH in women (Turner syndrome (TS)) and in men (Klinefelter syndrome (KS)).
TS is a chromosomal pathology associated with the complete or partial absence of one X chromosome accompanied by one or more specific phenotypic features and comorbidities. Persons with suspected TS need to have karyotyping of at least 20 cells (venous blood material). This allows determining the karyotype 45,X, structural anomalies of X chromosome and mosaicism if it is present in more than 10% of the cells. If the mosaic form of TS is suspected but not diagnosed with standard karyotyping, options for investigating more cells or fluorescence hybridization in situ (FISH) are possible. It is important to verify the mosaic forms, especially in cases of a clone with Y chromosome in TS, since such a karyotype carries an increased risk of gonadoblastoma. FISH increases the diagnostic rate of mosaic forms of aneuploidy. Primary hypogonadism in men is the insufficiency of testosterone synthesis and spermatogenesis failure due to the pathology of gonads. Chromosomal causes of primary hypogonadism and nonobstructive azoospermia account for about 15% and are included in the mandatory list of diagnostic examinations. The variants of karyotypes in KS and their clinical manifestations are considered. KS is much more often diagnosed with delay compared to TS. The main diagnostic method for KS is karyotyping and using FISH to detect mosaic forms.
Thus, cytogenetic testing (karyotyping) is the first line of examination for women and men with primary (non-iatrogenic) HH; the use of FISH increases the diagnostics efficiency of mosaic forms of sex chromosome aneuploidy. |
| first_indexed | 2024-12-16T06:31:38Z |
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| institution | Directory Open Access Journal |
| issn | 2309-4117 2411-1295 |
| language | English |
| last_indexed | 2024-12-16T06:31:38Z |
| publishDate | 2020-07-01 |
| publisher | Publishing House TRILIST |
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| series | Репродуктивная эндокринология |
| spelling | doaj.art-425f5514d4134b27a334c32cb8ca04bc2022-12-21T22:40:52ZengPublishing House TRILISTРепродуктивная эндокринология2309-41172411-12952020-07-01053879310.18370/2309-4117.2020.53.87-93207736Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature reviewО. А. Бурка0Л. П. Кузьмук1Г.О. Ісламова2С. В. Овчаренко3A.A. Bogomolets National Medical University DILA medical laboratory, KyivNational Medical Military Clinical Centre “Main Military Clinical Hospital”, KyivSI “O.M. Lukyanova IPOG of the NAMS of Ukraine” SSI “CIMT of the NAS of Ukraine“, KyivInstitute of Plastic Surgery “Virtus”, OdesaDespite the relatively small portion in the structure of the infertility causes, hypergonadotropic hypogonadism (HH) is one of the greatest challenges in reproductive medicine. Diagnosis of HH chromosomal causes often occurs with a significant delay. This is due to the widespread stereotype of the necessary presence of typical phenotypic characters (eunuchoid habitus, pterygoid folds on the neck). This review deals with clinical recommendations for diagnosis of the most common chromosomal causes of HH in women (Turner syndrome (TS)) and in men (Klinefelter syndrome (KS)). TS is a chromosomal pathology associated with the complete or partial absence of one X chromosome accompanied by one or more specific phenotypic features and comorbidities. Persons with suspected TS need to have karyotyping of at least 20 cells (venous blood material). This allows determining the karyotype 45,X, structural anomalies of X chromosome and mosaicism if it is present in more than 10% of the cells. If the mosaic form of TS is suspected but not diagnosed with standard karyotyping, options for investigating more cells or fluorescence hybridization in situ (FISH) are possible. It is important to verify the mosaic forms, especially in cases of a clone with Y chromosome in TS, since such a karyotype carries an increased risk of gonadoblastoma. FISH increases the diagnostic rate of mosaic forms of aneuploidy. Primary hypogonadism in men is the insufficiency of testosterone synthesis and spermatogenesis failure due to the pathology of gonads. Chromosomal causes of primary hypogonadism and nonobstructive azoospermia account for about 15% and are included in the mandatory list of diagnostic examinations. The variants of karyotypes in KS and their clinical manifestations are considered. KS is much more often diagnosed with delay compared to TS. The main diagnostic method for KS is karyotyping and using FISH to detect mosaic forms. Thus, cytogenetic testing (karyotyping) is the first line of examination for women and men with primary (non-iatrogenic) HH; the use of FISH increases the diagnostics efficiency of mosaic forms of sex chromosome aneuploidy.http://reproduct-endo.com/article/view/207736hypergonadotropic hypogonadismpremature ovarian failureamenorrheainfertilityazoospermiakaryotypingmosaicismfluorescence in situ hybridizationfish |
| spellingShingle | О. А. Бурка Л. П. Кузьмук Г.О. Ісламова С. В. Овчаренко Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review Репродуктивная эндокринология hypergonadotropic hypogonadism premature ovarian failure amenorrhea infertility azoospermia karyotyping mosaicism fluorescence in situ hybridization fish |
| title | Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review |
| title_full | Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review |
| title_fullStr | Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review |
| title_full_unstemmed | Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review |
| title_short | Chromosomal causes of hypergonadotropic hypogonadism in women and men. Literature review |
| title_sort | chromosomal causes of hypergonadotropic hypogonadism in women and men literature review |
| topic | hypergonadotropic hypogonadism premature ovarian failure amenorrhea infertility azoospermia karyotyping mosaicism fluorescence in situ hybridization fish |
| url | http://reproduct-endo.com/article/view/207736 |
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