Turner Syndrome

Turner Syndrome (ie Ullrich-Turner) is a genetic difference that has a spectrum of effects. It only affects females and can cause short stature, wide spaced nipple placement and congenital lymphedema (swelling of hands and feet). Incidence is estimated at 1 in 2500 births.1

Males have sex chromosomes XY and females have XX chromosomes. Females with Turner syndrome are missing an X chromosome in their cells and thus have 45 chromosomes instead of 46. There are a number of genetic variations (mosaic, deletions etc)2 that are possible in females with Turner syndrome, but these subtle differences often cannot be diagnosed without more sophisticated technology. Therefore the final genetic makeup of a child with Turner syndrome would likely be done when the child comes to the USA for further workup and testing.

There is a wide spectrum of issues that can be present in Turner syndrome. Some are identified at birth with identified swelling of hands and feet and other females are only identified later in life when they present with premature ovarian failure or infertility.

Some of the theoretical risks for a child born with Turner syndrome are:1

  • Slightly lower birthweight (2900g)
  • Short stature as adults- mean final adult height is 4’8”. Short stature can often be improved with growth hormone therapy.3
  • Hand and feet swelling in infancy (lymphedema) 80%
  • Mean IQ 90- normal population mean IQ is 100 with 70-130 normal range. Most kids with Turner syndrome have IQ’s in the normal range but they can have minor learning issues such as ADHD or nonverbal learning disabilities.4,5
  • Ovarian dysgenesis (abnormal development) in 90%. This leads to infertility in the majority of cases
  • Widely spaced nipples
  • Low hairline, webbed neck or extra skin at the neck
  • Mild knee or elbow anomalies, hip dislocation
  • Minor kidney issues. They will need a renal ultrasound at some point to look at their kidneys to see if they require followup or intervention. 
  • Heart defects such as bicuspid aortic valve or coarctation of the aorta- these typically do not affect development and if needed, can have surgical correction. They need ongoing ultrasounds (echocardiograms) every 1-5 years to monitor their hearts. 6
  • Hearing impairments 50%.7

Turner syndrome can be difficult to diagnose with the information we get from other referring countries. Kids typically have a normal growth velocity until about 3 years old and many children come home to the USA prior to that age. Many of the early signs such as lymphedema (hand and/or feet swelling) may have been present but were possibly not noticed or noted on the documentation, or the child may have not been in care yet. However despite the list of possible issues above, girls with Turner syndrome can lead remarkable and productive lives. As a group, their IQ’s are well in the normal range and the other issues are typically addressable by surgical or medical interventions.

Summary

Turner Syndrome: Not a common preadoption diagnosis since many children are diagnosed in school age or later. If diagnosed early, then there may be more heart and physical issues that may be present.
A number of medical considerations to take into account, but as a group, these kids can do very well. 

References

  1. Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. Elsevier Health Sciences; 2013.
  2. Maraschio P, Tupler R, Barbierato L, et al. An analysis of Xq deletions. Hum Genet. 1996;97(3):375-381.
  3. Quigley CA, Crowe BJ, Anglin DG, Chipman JJ. Growth hormone and low dose estrogen in Turner syndrome: results of a United States multi-center trial to near-final height. Journal of Clinical Endocrinology & Metabolism. 2002;87(5):2033.
  4. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. Journal of Clinical Endocrinology & Metabolism. 2007;92(1):10.
  5. Mazzocco MMM, Bhatia NS, Lesniak-Karpiak K. Visuospatial skills and their association with math performance in girls with fragile X or Turner syndrome. Child Neuropsychology. 2006;12(2):87-110.
  6. Völkl TMK, Degenhardt K, Koch A, Simm D, Dörr HG, Singer H. Cardiovascular anomalies in children and young adults with Ullrich‐Turner syndrome—the erlangen experience. Clin Cardiol. 2005;28(2):88-92.
  7. Stenberg AE, Nylén O, Windh M, Hultcrantz M. Otological problems in children with Turner's syndrome. Hear Res. 1998;124(1-2):85-90.a

 

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Book Author

Judith K. Eckerle, M.D. 
Director, Adoption Medicine Clinic
Assistant Professor of Pediatrics



Co-author

Kenneth L. Jones
Professor of Pediatrics
Chief of the Division of Dysmorphology and Teratology
Medical Director of the California Teratogen Information Service
University of California, San Diego School of Medicine

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