Turner Ullrich Syndrome

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Turner Syndrome (TS) is a disorder that may be difficult to diagnose clinically. This syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in females. The diagnosis is made by doing a specialized chromosome test. Without proof that the person has a abnormal X chromosome, another condition may be present (Noonan sydrome). Another reason for chromosome studies in ALL patients suspected of TS is to search for a Y chromosome. If present, further important preventative steps may be indicated. Early and long term coordinated and multidisciplinary care is very important for TS patients. Specialized teams composed of an endrocrinologist, medical geneticist, pediatrician, educators and others is highly recommended.

Some Key Features ...

Short stature

Webbed neck

Flat or shield-like chest

Widely spaced nipples

Immature ovaries

Our team suggests ...

Consulting a clinical geneticist

Specialized long term follow up is essential for anticipatory and preventive health care

Health Supervision for Children with TS
American Academy of Pediatrics, PEDIATRICS Vol. 111 No. 3 March 2003, pp. 692-702
Visitor Comments [for Professionals mainly]
" ... guidelines designed to assist the pediatrician for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotype ... "

The Turner Syndrome Support Society
TSSS(UK)
Visitor Comments [Support Groups]
" ... for discussion and information on TS ... "

** WARNING! **
The Images included below may be disturbing!

TS - Fetal hydrops or Hydrops fetalis
University of Utah - Web Path Pathology series.
Visitor Comments [for Professionals mainly]
Most often, an omen of fetal demise.

"Early presbyacusis in TS - Abstract - Poster
A. E. Stenberg et al,. (Austria, Sweden), February 15, 1999
" ... ear and hearing problems are common ... premature aging of the ear (presbyacusis) ... estrogen receptors are present in the inner ear ... "

Facts about human growth hormone
NovoNordisk, 2007
" ... production of genetically engineered hCH ... Norditropin ... "

Monosomy X (Turner) Syndrome
Sandra R Silva et al., theFetus.net, May 23, 1999

Turner, Síndrome de
Instituto de Investigación de Enfermedadas Raras
Visitor Comments [Spanish]
Sinónimos: Cromosoma X, Monosomía X, Disgenesia gonadal (45, X), Disgenesia gonadal (XO), Aplasia Ovárica, Tipo Turner, 45, X , Síndrome de, Pterigo Linfangiectasia, Bonnevie Ulrich, Síndrome de, Monosomía X, Morgagni Turner Albright, Síndrome de, Enanismo Ovárico, Tipo Turner ... Descripción en lenguaje coloquial: ... El síndrome de Turner es una cromosomopatía (enfermedad por aberración cromosómica) rara, caracterizada por talla corta, infantilismo sexual, cuello alado, cúbito valgo (desviación exagerada hacia dentro del antebrazo) y cariotipo (estudio de los cromosomas) 45,X. ... Descrito por primera vez en 1938, aunque su origen cromosómico no se descubrió hasta 1959. Se produce en 1 de cada 1.500-2.500 mujeres nacidas vivas. ... La frecuencia del cariotipo 45,X en el momento de la concepción es de alrededor del 13%, de ellos el 99% sufre un aborto espontáneo, lo que representa el 5-10% de todos los abortos. ... Se desconoce el mecanismo de la pérdida cromosómica y el riesgo de padecer el síndrome no aumenta con la edad materna. El cromosoma X único es de procedencia materna en el 75% de los casos. Es probable que los genes implicados en el fenotipo Turner sean genes ligados al cromosoma X que escapan a la inactivación.

Síndrome de Turner: Correlaciones Genotipo-Fenotipo
Journal D'Enodcrinologie Pediatrique, 19 de marzo 2001
Visitor Comments [Spanish]
El síndrome de Turner (ST) fue descrito por H.Turner en 1938 y en 1959 su relación con la alteración cromosómica (monosomia X). Se ha recorrido un largo camino desde estos primeros datos. Conocemos bien la gran variabilidad del fenotipo turneriano, que va desde el impresionante síndrome de Bonnevie-Ulrich al de una niña de talla baja pero de apariencia normal. La ausencia de pubertad, aprendida con complacencia en las facultades de medicina, es falsa, ya que aproximadamente el 40% de las niñas con ST tienen pubertad espontánea y el 2% alcanzan un embarazo espontáneo. Es preciso pues, preguntarse por las relaciones entre el genotipo y las tres principales manifestaciones del síndrome: la talla baja, el fenotipo y la disgenesia gonadal. ...

"Syndrome de Turner - traitements"
Jean-Claud Carel, Paris, France, 1998
Visitor Comments [for Professionals mainly] [French]
A formal 10 page article with 61 scientific citations. " ... la plupart des anomalies phenotypiques rencontrees peuvent etre corrigees, totalement ou en partie ... "

Shereshevskiy-Turner Syndrome
I.B.I.S. Birth Defects, December 2, 2003
Visitor Comments [Ukrainian]
A fact sheet for parents in Ukrainian
What is Turner Syndrome ... Why does it happen ... How is it diagnosed ... Typical symptoms ... What can be done ... Life prognosis ... Where to get additional information ...

NOTE: NOT ON THE WEB BUT WORTH ATTENTION

* "Turner Syndrome - A Guide for Families" (1992).
P. A. Riese, R.N. and L. E. Underwood, M.
both from the Division of Endocrinology, Department of Pediatrics, University of North Carolina at Chapel Hill.
Can be obtained from the Turner Syndrome Society.
Nice!, it includes TS growth charts, a comprehensive and comprehensible account.

* "Turner Syndrome: A Personal Perspective"
Lynn-Georgia Tesch, J.D.
Adolesc. Pediatr. Gynecol, 2:186, 1989.

Ms. Tesch has Turner Syndrome and is a prominent member of the Turner's Syndrome Society of the United States ... "My history is quite typical of others with Turner syndrome ... I was 12 years old ... it was apparent to me that i was "different" ..."

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Last Updated: 2008/3/6

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