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Isabelle Flechtner, Magali Viaud, Dulanjalee Kariyawasam, Marie Perrissin-Fabert, Maud Bidet, Anne Bachelot, Philippe Touraine, Philippe Labrune, Pascale De Lonlay, Michel Polak, and Galactosemia Study Group Galactosemia Study Group

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 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, gonadotrop axis, and pelvic morphology by ultrasound The secondary objective was to determine predictive factors for potent pregnancy without oocyte donation. Completed questionnaires from 103 patients, 56 females (median age, 19 years [5-52 years]) and 47 males (median age, 19 years [3-45 years]), were analyzed. Among the 45 females older than 11 years old, mean age for breast development first stage was 12 years; spontaneous menarche occurred in 25 females at a mean age of 14.6 years. After puberty, 60% of females had irregular menstrual cycles and 50% experienced amenorrhea at a median age of 30 years [15;42]. All age-groups confounded, FSH was above normal range for 65% of the patients, anti-Müllerian hormone and inhibin B were below the normal range according to age, 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 tried to conceive. Thus, spontaneous puberty and POI are both common in this population. Spontaneous menarche seems to be the best predictive factor for successful spontaneous pregnancy.