Premature ovarian insufficiency in patients with galactosemia
Background. Galactosemia is a congenital disorder of carbohydrate metabolism caused by a defect in any of the enzymes of galactose metabolism. One of the long-term complications is premature ovarian insufficiency (POI), which is more common in patients with the c.563A>G (Q188R) mutation in th...
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| Format: | Article |
| Language: | Russian |
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Union of pediatricians of Russia
2024-05-01
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| Series: | Педиатрическая фармакология |
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| Online Access: | https://www.pedpharma.ru/jour/article/view/2438 |
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| author | Irina V. Karachentsova Elena V. Sibirskaya Adelina A. Khairullina |
| author_facet | Irina V. Karachentsova Elena V. Sibirskaya Adelina A. Khairullina |
| author_sort | Irina V. Karachentsova |
| collection | DOAJ |
| description | Background. Galactosemia is a congenital disorder of carbohydrate metabolism caused by a defect in any of the enzymes of galactose metabolism. One of the long-term complications is premature ovarian insufficiency (POI), which is more common in patients with the c.563A>G (Q188R) mutation in the homozygous state in the galactose-1-phosphate uridylyltransferase (GALT) gene. At the same time, fertility factors may be higher in patients with POI caused by classical galactosemia (CG) compared with other causes of POI, which makes it difficult to resolve the issue of the need to use fertility preservation methods for this group of patients in the prepubescent period. Case report. This article describes two clinical observations of patients with CG who were diagnosed with hypergonadotropic hypogonadism. Patient A. was initiated hormone replacement therapy (HRT) at the age of 11, and according to the results of osteodensitometry, there is currently no decrease in bone mineral density. In patient C. at the age of 14, before the start of HRT, ovaries without pronounced follicular apparatus, osteopenia and osteoporosis were detected. The issue of the necessity and timing of the use of fertility preservation methods is being considered. Conclusion. Patients with CG are recommended to monitor hormonal profile indicators for timely administration of HRT. Cryopreservation of ovarian tissue should be considered as one of the options for maintaining fertility in patients with CG, taking into account that some of them still have the possibility of spontaneous pregnancy, despite the POI. |
| format | Article |
| id | doaj-art-98ff45d40eb94d2d9854b7338abfeab3 |
| institution | DOAJ |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2024-05-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-98ff45d40eb94d2d9854b7338abfeab32025-08-20T02:54:11ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892024-05-0121211912510.15690/pf.v21i2.27212073Premature ovarian insufficiency in patients with galactosemiaIrina V. Karachentsova0Elena V. Sibirskaya1Adelina A. Khairullina2N.I. Pirogov Russian National Research Medical UniversityN.I. Pirogov Russian National Research Medical University; Center for Adolescent Reproductive Health protection in the Moscow Region; Russian Children’s Clinical Hospital of N.I. Pirogov Russian National Research Medical University; A.I. Evdokimov Moscow State University of Medicine and DentistryN.I. Pirogov Russian National Research Medical UniversityBackground. Galactosemia is a congenital disorder of carbohydrate metabolism caused by a defect in any of the enzymes of galactose metabolism. One of the long-term complications is premature ovarian insufficiency (POI), which is more common in patients with the c.563A>G (Q188R) mutation in the homozygous state in the galactose-1-phosphate uridylyltransferase (GALT) gene. At the same time, fertility factors may be higher in patients with POI caused by classical galactosemia (CG) compared with other causes of POI, which makes it difficult to resolve the issue of the need to use fertility preservation methods for this group of patients in the prepubescent period. Case report. This article describes two clinical observations of patients with CG who were diagnosed with hypergonadotropic hypogonadism. Patient A. was initiated hormone replacement therapy (HRT) at the age of 11, and according to the results of osteodensitometry, there is currently no decrease in bone mineral density. In patient C. at the age of 14, before the start of HRT, ovaries without pronounced follicular apparatus, osteopenia and osteoporosis were detected. The issue of the necessity and timing of the use of fertility preservation methods is being considered. Conclusion. Patients with CG are recommended to monitor hormonal profile indicators for timely administration of HRT. Cryopreservation of ovarian tissue should be considered as one of the options for maintaining fertility in patients with CG, taking into account that some of them still have the possibility of spontaneous pregnancy, despite the POI.https://www.pedpharma.ru/jour/article/view/2438classical galactosemiacase reportgonadal damagepremature ovarian insufficiencyinfertilitypreservation of fertilitycryopreservation of ovarian tissue |
| spellingShingle | Irina V. Karachentsova Elena V. Sibirskaya Adelina A. Khairullina Premature ovarian insufficiency in patients with galactosemia Педиатрическая фармакология classical galactosemia case report gonadal damage premature ovarian insufficiency infertility preservation of fertility cryopreservation of ovarian tissue |
| title | Premature ovarian insufficiency in patients with galactosemia |
| title_full | Premature ovarian insufficiency in patients with galactosemia |
| title_fullStr | Premature ovarian insufficiency in patients with galactosemia |
| title_full_unstemmed | Premature ovarian insufficiency in patients with galactosemia |
| title_short | Premature ovarian insufficiency in patients with galactosemia |
| title_sort | premature ovarian insufficiency in patients with galactosemia |
| topic | classical galactosemia case report gonadal damage premature ovarian insufficiency infertility preservation of fertility cryopreservation of ovarian tissue |
| url | https://www.pedpharma.ru/jour/article/view/2438 |
| work_keys_str_mv | AT irinavkarachentsova prematureovarianinsufficiencyinpatientswithgalactosemia AT elenavsibirskaya prematureovarianinsufficiencyinpatientswithgalactosemia AT adelinaakhairullina prematureovarianinsufficiencyinpatientswithgalactosemia |