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. 2020 Feb;182(2):303-313.
doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19.

Turner syndrome in diverse populations

Paul Kruszka  1 , Yonit A Addissie  1 , Cedrik Tekendo-Ngongang  1 , Kelly L Jones  2 , Sarah K Savage  3 , Neerja Gupta  4 , Nirmala D Sirisena  5 , Vajira H W Dissanayake  5 , C Sampath Paththinige  5 , Teresa Aravena  6 , Sheela Nampoothiri  7 , Dhanya Yesodharan  7 , Katta M Girisha  8 , Siddaramappa Jagdish Patil  9 , Saumya Shekhar Jamuar  10   11   12 , Jasmine Chew-Yin Goh  13 , Agustini Utari  14 , Nydia Sihombing  14 , Rupesh Mishra  15 , Neer Shoba Chitrakar  15 , Brenda C Iriele  1 , Ezana Lulseged  1 , Andre Megarbane  16 , Annette Uwineza  17 , Elizabeth Eberechi Oyenusi  18 , Oluwarotimi Bolaji Olopade  19 , Olufemi Adetola Fasanmade  19 , Milagros M Duenas-Roque  20 , Meow-Keong Thong  21 , Joanna Y L Tung  22 , Gary T K Mok  22 , Nicole Fleischer  3 , Godfrey M Rwegerera  23 , María Beatriz de Herreros  24 , Johnathan Watts  25 , Karen Fieggen  25 , Victoria Huckstadt  26 , Angélica Moresco  26 , María Gabriela Obregon  26 , Dalia Farouk Hussen  27 , Neveen A Ashaat  28 , Engy A Ashaat  29 , Brian H Y Chung  30 , Eben Badoe  31 , Sultana M H Faradz  12 , Mona O El Ruby  29 , Vorasuk Shotelersuk  32 , Ambroise Wonkam  25 , Ekanem Nsikak Ekure  18 , Shubha R Phadke  33 , Antonio Richieri-Costa  34 , Maximilian Muenke  1
Affiliations

Turner syndrome in diverse populations

Paul Kruszka et al. Am J Med Genet A. 2020 Feb.

Abstract

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.

Keywords: Turner syndrome; diverse populations; facial analysis technology; health disparities.

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Figures

Figure 1.
Figure 1.
Individuals of African descent with Turner syndrome See supplementary Table 1 for age, country of origin, and karyotype.
Figure 2.
Figure 2.
Individuals of Asian descent with Turner syndrome See supplementary Table 1 for age, country of origin, and karyotype.
Figure 3.
Figure 3.
Individuals of Latin American descent with Turner syndrome. See supplementary Table 1 for age, country of origin, and karyotype.
Figure 4.
Figure 4.
Hands of individuals with Turner syndrome. See supplementary Table 1 for age, country of origin, and karyotype.
See this image and copyright information in PMC

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