Turner Syndrome (TS) was originally reported in 1930 and 1937, based on clinical findings in patients with infantilism, congenital webbed neck, and cubitus valgus. 45,X is the prototypic karyotype. Although this syndrome is an old one, there are some issues that still need to be discussed. For example, some experts claim that patients with a deletion in the long arm of X with delayed puberty but no lymphoedema should be excluded while others disagree because of the presence of delayed puberty, which is related to hypogonadism. Some patients with 45,X/46,XX show a wide variety of signs and symptoms, namely that they may be fertile and not have short stature or any typical physical features of the disease.
More than 90% of patients with this syndrome who are followed at hospitals during childhood will not experience regular menstruation. Therefore, hormone replacement therapy (HRT) and infertility treatment (if possible) are major concerns for patients with TS. However, HRT for pubertal induction in children is only beginning to be explored. Furthermore, the increased risk of fractures accompanying decreased bone mineral density, at least partially explained by estrogen deficiency due to primary hypogonadism, is a matter of lifelong medical importance. Infertility treatment is still under active research.
We would like an update on recent information on hypogonadism in TS and to present a new perspective on the subject. Thanks to the publication of several elegant review papers as well as guidelines, including a recent, extensive report by Gravhold et al., we can focus on new developments in this field and areas which we feel have not received due attention.
The contents of this issue cover topics ranging from basic science to clinical medicine. The former includes “Ovarian dysfunction in patients with Turner syndrome” and “Successful ovarian reconstruction in mice” among others, while the latter is represented by “Puberty induction in patients with TS without gonadal function and “Knowns and unknowns about bone fracture and bone density.”
Submissions may cover, but are not limited to:
1) Delayed/absent pubertal development
2) Bone age retardation
3) Infertility
4) Decreased bone mineral density
5) Current treatment
6) Future Research Perspectives
7) Illustrative case presentation
8) Among others
(mini)Review, Opinion, Original Research papers, and Case reports are welcome.
Turner Syndrome (TS) was originally reported in 1930 and 1937, based on clinical findings in patients with infantilism, congenital webbed neck, and cubitus valgus. 45,X is the prototypic karyotype. Although this syndrome is an old one, there are some issues that still need to be discussed. For example, some experts claim that patients with a deletion in the long arm of X with delayed puberty but no lymphoedema should be excluded while others disagree because of the presence of delayed puberty, which is related to hypogonadism. Some patients with 45,X/46,XX show a wide variety of signs and symptoms, namely that they may be fertile and not have short stature or any typical physical features of the disease.
More than 90% of patients with this syndrome who are followed at hospitals during childhood will not experience regular menstruation. Therefore, hormone replacement therapy (HRT) and infertility treatment (if possible) are major concerns for patients with TS. However, HRT for pubertal induction in children is only beginning to be explored. Furthermore, the increased risk of fractures accompanying decreased bone mineral density, at least partially explained by estrogen deficiency due to primary hypogonadism, is a matter of lifelong medical importance. Infertility treatment is still under active research.
We would like an update on recent information on hypogonadism in TS and to present a new perspective on the subject. Thanks to the publication of several elegant review papers as well as guidelines, including a recent, extensive report by Gravhold et al., we can focus on new developments in this field and areas which we feel have not received due attention.
The contents of this issue cover topics ranging from basic science to clinical medicine. The former includes “Ovarian dysfunction in patients with Turner syndrome” and “Successful ovarian reconstruction in mice” among others, while the latter is represented by “Puberty induction in patients with TS without gonadal function and “Knowns and unknowns about bone fracture and bone density.”
Submissions may cover, but are not limited to:
1) Delayed/absent pubertal development
2) Bone age retardation
3) Infertility
4) Decreased bone mineral density
5) Current treatment
6) Future Research Perspectives
7) Illustrative case presentation
8) Among others
(mini)Review, Opinion, Original Research papers, and Case reports are welcome.
