The Influence of Growth Hormone Treatment on Glucose Homeostasis in GrowthHormone-Deficient Children: A Six-Year Follow-Up Study

2016 ◽  
Vol 86 (3) ◽  
pp. 196-200 ◽  
Author(s):  
Federico Baronio ◽  
Laura Mazzanti ◽  
Ylenia Girtler ◽  
Federica Tamburrino ◽  
Anisia Fazzi ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Glucose Homeostasis ◽  
Growth Hormone Treatment ◽  
Hormone Treatment ◽  
Follow Up Study

Familial Turner syndrome: the importance of information

2016 ◽  
Vol 29 (5) ◽  
Author(s):  
Isabel Periquito ◽  
Catarina Carrusca ◽  
Joana Morgado ◽  
Brígida Robalo ◽  
Carla Pereira ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Turner Syndrome ◽  
Unusual Case ◽  
Growth Hormone Treatment ◽  
Genetic Disorder ◽  
Hormone Treatment ◽  
Live Births ◽  
Tertiary Center ◽  
Common Genetic Disorder

AbstractTurner 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.

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