Familial Turner syndrome: the importance of information

Isabel Periquito, Catarina Carrusca, Joana Morgado, Brígida Robalo, Carla Pereira and Maria de Lurdes Sampaio


Turner syndrome is a common genetic disorder with an incidence of 1 in 2500 live births. Spontaneous fertility is rare in such patients and is most likely in women with mosaicism or very distal Xp deletions. The authors report an unusual case of familial Turner syndrome in a woman with mosaicism 45,X/46,Xdel(Xp) karyotype with three documented spontaneous pregnancies, which resulted in two daughters with 46,Xdel(X)(p11.4)mat karyotype and a healthy son. The mother was first diagnosed by the age of 11 and did not receive contraceptive medication, due to information that she would be infertile. Both daughters were referred to an endocrinology unit and are now under growth hormone treatment, and have been growing in the 3rd percentile. This family illustrates the complexity and difficulties in counseling, follow-up and treatment in Turner syndrome, namely referring to a tertiary center, fertility and treatment such as growth hormone and hormonal replacement, due to the heterogeneity of the clinical spectrum.

  • 1.

    Sybert VP, Mccauley E. Turner’s syndrome. N Engl J Med 2004; 351:1227–38.

  • 2.

    Frias JL, Davenport ML. Health supervision for children with turner syndrome. Pediatrics 2003;111:692–702.

  • 3.

    Portnoï MF, Chantot-Bastaraud S, Christin-Maitre S, Carbonne B, Beaujard MP, et al. Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. Eur J Med Genet 2012;55:635–40.

  • 4.

    Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10–25.

  • 5.

    Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004;151:657–87.

  • 6.

    Hadnott TN, Gould HN, Gharib AM, Bondy CA.Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. Fertil Steril 2011;95:2251–6.

  • 7.

    Bryman I, Sylvén L, Berntorp K, Innala E, Bergström I, et al. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril 2011;95:2507–10.

  • 8.

    Hewitt JK, Jayasinghe Y, Amor DJ, Gillam LH, Warne GL, et al. Fertility in turner syndrome. Clin Endocrinol (Oxf) 2013;79: 606–14.

  • 9.

    Kiess W, Penke M, Gorski T, Körner A, Hoppmann J, et al. Turner syndrome – working together with patients and their families. J Pediatr Endocrinol Metab 2015;28:1199–201.

  • 10.

    Starke M, Wikland KA, Möller A. Parents’ experiences of receiving the diagnosis of Turner syndrome: An explorative and retrospective study. Patient Educ Couns 2002;47: 347–54.

  • 11.

    Pinsker JE. Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab 2012;97:994–1003.

  • 12.

    Saenger P, Wikland A, Davenport C, Gravholt C, Hintz R, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001;86:3061–9.

  • 13.

    De Lemos-Marini SH, Morcillo AM, Baptista MT, Guerra-Jr G, Maciel-Guerra AT. Spontaneous final height in Turner’s syndrome in Brazil. J Pediatr Endocrinol Metab 2007;20: 1207–14.

  • 14.

    Cavallo L, Gurrado R. Endogenous growth hormone secretion does not correlate with growth in patients with Turner’s syndrome. Italian Study Group for Turner Syndrome. J Pediatr Endocrinol Metab 1999;12:623–7.

  • 15.

    Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000;9: 695–702.

  • 16.

    Gravholt CH, Naeraa RW, Fisker S, Christiansen JS. Body composition and physical fitness are major determinants of the growth hormone-insulin-like growth factor axis aberrations in adult Turner’s syndrome, with important modulations by treatment with 17β-estradiol. J Clin Endocrinol Metab 1997;82:2570–7.

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The Journal of Pediatric Endocrinology and Metabolism (JPEM) is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups, and publishes the results of clinical investigations in pediatric endocrinology and basic research. JPEM publishes Review Articles, Original Research, Case Reports, Short Communications and Letters to the Editor.