{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:33Z","timestamp":1784556993294,"version":"3.55.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"2","content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1\/30,000\u201360,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental 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 females (median age, 19 years (3\u201352 years)) and 47 males (median age, 19 years (3\u201345 years)), were analyzed. Among the 43 females older than 13 years old, mean age for breast development 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 reference range for 65.7% of the patients, anti-M\u00fcllerian 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, all 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 seems to be the best predictive factor for successful spontaneous pregnancy.<\/jats:p>","DOI":"10.1530\/ec-21-0013","type":"journal-article","created":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T08:36:26Z","timestamp":1611563786000},"page":"240-247","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":11,"title":["Puberty and fertility in classic galactosemia"],"prefix":"10.1530","volume":"10","author":[{"given":"Isabelle","family":"Flechtner","sequence":"first","affiliation":[{"name":"1Center for Rare Gynecological Disorders, Centre des Pathologies Gyn\u00e9cologiques Rares, Paris, France"},{"name":"2Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Viaud","sequence":"additional","affiliation":[{"name":"1Center for Rare Gynecological Disorders, Centre des Pathologies Gyn\u00e9cologiques Rares, Paris, France"},{"name":"2Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dulanjalee","family":"Kariyawasam","sequence":"additional","affiliation":[{"name":"2Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Perrissin-Fabert","sequence":"additional","affiliation":[{"name":"1Center for Rare Gynecological Disorders, Centre des Pathologies Gyn\u00e9cologiques Rares, Paris, France"},{"name":"2Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maud","family":"Bidet","sequence":"additional","affiliation":[{"name":"1Center for Rare Gynecological Disorders, Centre des Pathologies Gyn\u00e9cologiques Rares, Paris, France"},{"name":"2Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bachelot","sequence":"additional","affiliation":[{"name":"1Center for Rare Gynecological Disorders, Centre des Pathologies Gyn\u00e9cologiques Rares, Paris, France"},{"name":"3Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, ICAN, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Touraine","sequence":"additional","affiliation":[{"name":"1Center for Rare Gynecological Disorders, Centre des Pathologies Gyn\u00e9cologiques Rares, Paris, France"},{"name":"3Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, ICAN, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Labrune","sequence":"additional","affiliation":[{"name":"4Department of Pediatrics, APHP, Centre de R\u00e9f\u00e9rence des Maladies h\u00e9r\u00e9ditaires du M\u00e9tabolisme H\u00e9patique, Hopital Antoine B\u00e9cl\u00e8re and Paris Sud University, Clamart, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[{"name":"5Reference Center of Inherited Metabolic Diseases, Universit\u00e9 de Paris, Necker Enfants Malades, University Hospital, Paris, France"},{"name":"6Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Universit\u00e9 de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Polak","sequence":"additional","affiliation":[{"name":"1Center for Rare Gynecological Disorders, Centre des Pathologies Gyn\u00e9cologiques Rares, Paris, France"},{"name":"2Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France"},{"name":"6Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Universit\u00e9 de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine Connections"],"original-title":[],"link":[{"URL":"https:\/\/ec.bioscientifica.com\/view\/journals\/ec\/10\/2\/EC-21-0013.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ec.bioscientifica.com\/downloadpdf\/journals\/ec\/10\/2\/EC-21-0013.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:44:24Z","timestamp":1784555064000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/ec\/article\/10\/2\/240-247\/225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/ec-21-0013","relation":{},"ISSN":["2049-3614"],"issn-type":[{"value":"2049-3614","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2]]}}}