Puberty and fertility in classic galactosemia
Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelop mental impairments. We performed with the French Referen...
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| Materiálatiipa: | Artihkal |
| Giella: | English |
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Bioscientifica
2021-03-01
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| Ráidu: | Endocrine Connections |
| Fáttát: | |
| Liŋkkat: | https://ec.bioscientifica.com/view/journals/ec/10/2/EC-21-0013.xml |
| _version_ | 1828967686789398528 |
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| author | Isabelle Flechtner Magali Viaud Dulanjalee Kariyawasam Marie Perrissin-Fabert Maud Bidet Anne Bachelot Philippe Touraine Philippe Labrune Pascale de Lonlay Michel Polak |
| author_facet | Isabelle Flechtner Magali Viaud Dulanjalee Kariyawasam Marie Perrissin-Fabert Maud Bidet Anne Bachelot Philippe Touraine Philippe Labrune Pascale de Lonlay Michel Polak |
| author_sort | Isabelle Flechtner |
| collection | DOAJ |
| description | Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelop mental impairments. We performed with the French Reference Centers for Rare Diseases a multisite collaborative questionnaire survey for classic galactosemic patients. Its primary objective was to assess their puberty, pregnancy, gonadotropic axis, and pelvic morphology by ultrasound. The secondary objective was to determine predictive factors for pregnancy without oocyte donation. Completed questionnaires from 103 patients, 56 female s (median age, 19 years (3–52 years)) and 47 males (median age, 19 years (3–45 years)), were analyzed. Among the 43 females older than 13 years old, mean age for breast develop ment first stage was 13.8 years; spontaneous menarche occurred in 21/31 females at a mean age of 14.6 years. In these 21 women, 62% had spaniomenorrhea and 7/17 older than 30 years had amenorrhea. All age-groups confounded, FSH was above refere nce range for 65.7% of the patients, anti-Müllerian hormone and inhibin B were undetectable, and the ovaries were small with few or no follicles detected. Among the 5 females who sought to conceive, 4 had pregnancies. Among the 47 males, 1 had cryptorchidism, al l have normal testicular function and none had a desire to conceive children. Thus, spontaneous puberty and POI are both common in this population. Spontaneous menarche se ems to be the best predictive factor for successful spontaneous pregnancy. |
| first_indexed | 2024-12-14T11:54:54Z |
| format | Article |
| id | doaj.art-f71757f73734479bb0e72a091d404a42 |
| institution | Directory Open Access Journal |
| issn | 2049-3614 2049-3614 |
| language | English |
| last_indexed | 2024-12-14T11:54:54Z |
| publishDate | 2021-03-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrine Connections |
| spelling | doaj.art-f71757f73734479bb0e72a091d404a422022-12-21T23:02:08ZengBioscientificaEndocrine Connections2049-36142049-36142021-03-01102240247https://doi.org/10.1530/EC-21-0013Puberty and fertility in classic galactosemiaIsabelle Flechtner0Magali Viaud1Dulanjalee Kariyawasam2Marie Perrissin-Fabert3Maud Bidet4Anne Bachelot5Philippe Touraine6Philippe Labrune7Pascale de Lonlay8Michel Polak9Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, FranceCenter for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, FranceDepartment of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, FranceCenter for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, FranceCenter for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, FranceCenter for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France; Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, FranceCenter for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France; Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, FranceDepartment of Pediatrics, APHP, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, Hopital Antoine Béclère and Paris Sud University, Clamart, FranceReference Center of Inherited Metabolic Diseases, Université de Paris, Necker Enfants Malades, University Hospital, Paris, France; Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France; Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, FranceClassic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelop mental impairments. We performed with the French Reference Centers for Rare Diseases a multisite collaborative questionnaire survey for classic galactosemic patients. Its primary objective was to assess their puberty, pregnancy, gonadotropic axis, and pelvic morphology by ultrasound. The secondary objective was to determine predictive factors for pregnancy without oocyte donation. Completed questionnaires from 103 patients, 56 female s (median age, 19 years (3–52 years)) and 47 males (median age, 19 years (3–45 years)), were analyzed. Among the 43 females older than 13 years old, mean age for breast develop ment first stage was 13.8 years; spontaneous menarche occurred in 21/31 females at a mean age of 14.6 years. In these 21 women, 62% had spaniomenorrhea and 7/17 older than 30 years had amenorrhea. All age-groups confounded, FSH was above refere nce range for 65.7% of the patients, anti-Müllerian hormone and inhibin B were undetectable, and the ovaries were small with few or no follicles detected. Among the 5 females who sought to conceive, 4 had pregnancies. Among the 47 males, 1 had cryptorchidism, al l have normal testicular function and none had a desire to conceive children. Thus, spontaneous puberty and POI are both common in this population. Spontaneous menarche se ems to be the best predictive factor for successful spontaneous pregnancy.https://ec.bioscientifica.com/view/journals/ec/10/2/EC-21-0013.xmlpremature ovarian insufficiencygalactosemiapubertyfertility |
| spellingShingle | Isabelle Flechtner Magali Viaud Dulanjalee Kariyawasam Marie Perrissin-Fabert Maud Bidet Anne Bachelot Philippe Touraine Philippe Labrune Pascale de Lonlay Michel Polak Puberty and fertility in classic galactosemia Endocrine Connections premature ovarian insufficiency galactosemia puberty fertility |
| title | Puberty and fertility in classic galactosemia |
| title_full | Puberty and fertility in classic galactosemia |
| title_fullStr | Puberty and fertility in classic galactosemia |
| title_full_unstemmed | Puberty and fertility in classic galactosemia |
| title_short | Puberty and fertility in classic galactosemia |
| title_sort | puberty and fertility in classic galactosemia |
| topic | premature ovarian insufficiency galactosemia puberty fertility |
| url | https://ec.bioscientifica.com/view/journals/ec/10/2/EC-21-0013.xml |
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