New insights into clinical features, karyotypes, and age at diagnosis in women with Turner syndrome
Abstract
Introduction: Turner syndrome (TS) is due to a chromosomal abnormality in which only one normal X chromosome is present. The purpose of the study was the assessment the prevalence of phenotypic differences in TS-women and monosomy-45,X and with other karyotypes as well as the possible relationship between the presence of differentiating features and age at final TS diagnosis.
Material and methods: The prevalence of anomalies and abnormalities from history taking/physical examination of 157 TS-patients was compared to 25 healthy controls (age 27.3 ± 4.5 years). The age at TS-symptom occurrence and final TS diagnosis was also analysed.
Results: Ninety-three TS women with 45,X (25.2 ± 7.1y) and 64 with other karyotypes (non-45,X) (age 24.1 ± 8.2 years) had lower growth than controls (144 ± 7.6 and 145.7 ± 6.8 vs. 165.8 ± 6.6 cm, respectively; p < 0.001). Only 15 and 12 out of 37 non-gynaecological features occurred more frequently in 45,X and non-45,X, compared to controls. 45,X and non-45,X wpmen did not differ in terms of body height. Out of 60 study parameters, only nine differed significantly between 45,X TS women and those with other karyotypes. Mean age at TS-symptom occurrence (45,X: 6.8 ± 5.4 years; non-45,X: 10.3 ± 5.2 years; p < 0.001) and final TS diagnosis (45,X: 13.2 ± 8 years; non 45,X: 17 ± 8.2 years; p = 0.004) differed between TS groups.
Conclusions: 1. The prevalence of the majority of clinical manifestations of Turner syndrome does not differ between TS women with 45,X monosomy and non-45,X karyotypes. 2. Certain manifestations of Turner syndrome are more prevalent in women with non-45,X karyotypes compared to those with 45,X monosomy. 3. Clinical manifestations, the prevalence of which differs between TS-women with non-45,X karyotypes and 45,X monosomy, might help lower the age at diagnosis.
Keywords: Turner syndromeclinical featuresphenotypekaryotypeage at diagnosis
References
- Gravholt CH, Andersen NH, Conway GS, et al. International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017; 177(3): G1–G70.
- Connor JM, Loughlin S. Molecular Genetics of Turner's Syndrome. Acta Paediatrica Sand. 1989; 78(Suppl): 77–80.
- Lippe B. Turner Syndrome. Endocrinol Metab Clini North Am. 1991; 20(1): 121–152.
- Zinn AR, Ross JL. Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF). Semin Reprod Med. 2001; 19(2): 141–146.
- Cabrol S, Chantot-Bastaraud S, Christin-Maitre S, et al. French Collaborative Young Turner Study Group. [Turner syndrome]. Ann Endocrinol (Paris). 2007; 68(1): 2–9.
- Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet. 1995; 95(6): 607–629.
- Gawlik A, Malecka-Tendera E. Transitions in endocrinology: treatment of Turner's syndrome during transition. Eur J Endocrinol. 2014; 170(2): R57–R74.
- Hall JG, Gilchrist DM. Turner syndrome and its variants. Pediatr Clin North Am. 1990; 37(6): 1421–1440.
- Miguel-Neto J, Carvalho AB, Marques-de-Faria AP, et al. New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome. J Pediatr Endocrinol Metab. 2016; 29(4): 475–479.
- Ackermann A, Bamba V. Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks. J Clin Transl Endocrinol. 2014; 1(3): 61–65.
- Ibarra-Ramírez M, Martínez-de-Villarreal LE. Clinical and genetic aspects of Turner's syndrome. Medicina Universitaria. 2016; 18(70): 42–48.
- De Groote K, Demulier L, De Backer J, et al. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment. J Hypertens. 2015; 33(7): 1342–1351.
- Jez W, Irzyniec T, Pyrkosz A. [Selected problems of the diagnosis of Turner's syndrome]. Przegl Lek. 2007; 64(3): 130–133.
- Cameron-Pimblett A, La Rosa C, King TFJ, et al. The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan. Clin Endocrinol (Oxf). 2017; 87(5): 532–538.
- Lebenthal Y, Levy S, Sofrin-Drucker E, et al. The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes. Front Endocrinol (Lausanne). 2018; 9: 27.
- Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012; 97(6): E994–1003.
- Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser. 1990; 26(4): 209–239.
- Styne DM, Grumbach MM. Puberty: ontogeny, neuroendocrinology, physiology, and disorders. Pituitary physiology and diagnostic evaluation. In: Melmed S, Polonsky KS, Reed Larsen P, Kronenberg HM. ed. Williams Textbook of Endocrinology, 12th ed. Saunders Elsevier, Philadelphia 2011: 1054–1201.
- Moussaif NEl, Haddad N, Iraqi N, et al. 45,X/46,XY mosaicisme: Report of five cases and clinical review. Annales d'Endocrinologie. 2011; 72(3): 239–243.
- Frelich A, Frelich J, Jeż W, et al. Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype. Endokrynol Pol. 2017; 68(1): 47–52.
- Irzyniec TJ, Jeż W. A beneficial effect of estradiol on blood pressure, not on glucose and lipids levels in women with Turner syndrome. Arterial Hypertens . 2016; 20(4): 206–210.
- Devesa J, Almengló C, Devesa P. Multiple Effects of Growth Hormone in the Body: Is it Really the Hormone for Growth? Clin Med Insights Endocrinol Diabetes. 2016; 9: 47–71.
- Irzyniec TJ, Jeż W. The influence of hormonal replacement and growth hormone treatment on the lipids in Turner syndrome. Gynecol Endocrinol. 2014; 30(3): 250–253.
- Fernandez R, Pasaro E. Tall stature and gonadal dysgenesis in a non-mosaic girl 45,X. Horm Res Paediatr. 2010; 73(3): 210–214.
- Hjerrild BE, Mortensen KH, Gravholt CH. Turner syndrome and clinical treatment. Br Med Bull. 2008; 86(6): 77–93.
- Berdahl LD, Wenstrom KD, Hanson JW. Web neck anomaly and its association with congenital heart disease. Am J Med Genet. 1995; 56(3): 304–307.
- Elder DA, Roper MG, Henderson RC, et al. Kyphosis in a Turner syndrome population. Pediatrics. 2002; 109(6): e93.
- Loscalzo ML, Van PL, Ho VB, et al. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics. 2005; 115(3): 732–735.
- Sävendahl L, Davenport ML. Delayed diagnoses of Turner's syndrome: proposed guidelines for change. J Pediatr. 2000; 137(4): 455–459.
- Jeż W, Cybulska D, Buliński A, Jarząb B, Jarząb J. Zespół Turnera. Termedia Wydawnictwa Medyczne, Poznań 2010: 58–63.
- Jeż W, Żarów R, Brudecki J, et al. Menarche u dziewcząt z zespołem Turnera. Ann UMCS Sect D. 2006; 3(Suppl 16): 55–58.
- Hagen CP, Main KM, Kjaergaard S, et al. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty. Hum Reprod. 2010; 25(12): 3134–3141.
- Elsheikh M, Dunger DB, Conway GS, et al. Turner's syndrome in adulthood. Endocr Rev. 2002; 23(1): 120–140.
- Gawlik A, Gawlik T, Małecka-Tendera E, et al. [The influence of phenotypic expression on the age at diagnosis in Turner syndrome]. Pediatr Endocrinol. 2006; 5(2): 23–30.
- Lee MC, Conway GS. Turner's syndrome: challenges of late diagnosis. Lancet Diabetes Endocrinol. 2014; 2(4): 333–338.
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