Stefano Stagi1, Mariarosaria di Tommaso2, Perla Scalini3, Elisabetta Lapi4, Stefania Losi5, Erica Bencini5, Fabrizio Masoni6, Laura Dosa4, Sabrina Becciani3, Maurizio de Martino3. 1. Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy. Electronic address: stefano.stagi@yahoo.it. 2. Department of Health Sciences, University of Florence, Careggi Hospital, Florence, Italy. 3. Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy. 4. Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. 5. Pediatric Gynecology Unit, Anna Meyer Children's University Hospital, Florence, Italy. 6. Pediatric Unit, Empoli Hospital, Empoli, Italy.
Abstract
OBJECTIVE: To evaluate the hypothalamus-hypophysis-gonad axis in a cohort of children and adolescents with nonmosaic triple X syndrome. DESIGN: Cross-sectional study with retrospective analysis. SETTING: University pediatric hospital. PATIENT(S): Fifteen prepubertal subjects (median age 9.0 years, range 6.9-11.9 years) with nonmosaic triple X syndrome and age- and pubertal-matched control group (30 girls, median age 9.1 y, range 6.9-11.6 years). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): We evaluated FSH, LH, and E2 levels and performed an autoimmunity screening as well as a pelvic ultrasonography and an LH-releasing hormone stimulation test. RESULT(S): All triple X patients (with and without pubertal signs) showed a pubertal LH peak level that was significantly different from controls. Triple X patients showed increased basal and peak FSH and LH values compared with control subjects. However, the mean E2 level was significantly lower than control subjects. However, triple X patients showed reduced DHEAS levels and reduced inhibin levels compared with control subjects. Finally, triple X patients had a significantly reduced ovarian volume compared with control subjects, in both prepubertal and pubertal patients. CONCLUSION(S): Triple X patients showed premature activation of the GnRH pulse generator, even without puberty signs. Both basal and peak LH and FSH levels were higher than in control subjects, and E2 and inhibin levels and ovarian volume were reduced, which led to a reduced gonadal function. Other studies and a longitudinal evaluation is necessary to better understand the endocrinologic features of these subjects.
OBJECTIVE: To evaluate the hypothalamus-hypophysis-gonad axis in a cohort of children and adolescents with nonmosaic triple X syndrome. DESIGN: Cross-sectional study with retrospective analysis. SETTING: University pediatric hospital. PATIENT(S): Fifteen prepubertal subjects (median age 9.0 years, range 6.9-11.9 years) with nonmosaic triple X syndrome and age- and pubertal-matched control group (30 girls, median age 9.1 y, range 6.9-11.6 years). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): We evaluated FSH, LH, and E2 levels and performed an autoimmunity screening as well as a pelvic ultrasonography and an LH-releasing hormone stimulation test. RESULT(S): All triple X patients (with and without pubertal signs) showed a pubertal LH peak level that was significantly different from controls. Triple X patients showed increased basal and peak FSH and LH values compared with control subjects. However, the mean E2 level was significantly lower than control subjects. However, triple X patients showed reduced DHEAS levels and reduced inhibin levels compared with control subjects. Finally, triple X patients had a significantly reduced ovarian volume compared with control subjects, in both prepubertal and pubertal patients. CONCLUSION(S): Triple X patients showed premature activation of the GnRH pulse generator, even without puberty signs. Both basal and peak LH and FSH levels were higher than in control subjects, and E2 and inhibin levels and ovarian volume were reduced, which led to a reduced gonadal function. Other studies and a longitudinal evaluation is necessary to better understand the endocrinologic features of these subjects.
Authors: Nicole Tartaglia; Susan Howell; Shanlee Davis; Karen Kowal; Tanea Tanda; Mariah Brown; Cristina Boada; Amanda Alston; Leah Crawford; Talia Thompson; Sophie van Rijn; Rebecca Wilson; Jennifer Janusz; Judith Ross Journal: Am J Med Genet C Semin Med Genet Date: 2020-06-07 Impact factor: 3.908