These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: XO/XY mosaicism with non fluorescent Y chromosome: clinical, cytogenetic and endocrinological studies on a female subject.
    Author: Melis GB, Mameli M, Cardia S, Genazzani AR, Milia A, Nasi A, Paoletti AM, Puddu R, Fioretti P.
    Journal: Acta Eur Fertil; 1977 Dec; 8(4):283-96. PubMed ID: 610313.
    Abstract:
    Cytogenetic, clinical and endocrinological studies were performed on a phenotypically female subject who had a XO/XY mosaicism. This patient had a primary amenorrhea. A disgenic testis on the left side and a primordial ovary on the right one was showed by laparotomy performed in this subject in the prepubertal age. The Y chromosome had not any fluorescence and was shorter than normal one. The basal plasma levels of various hormones and the hypothalamic-pituitary stimulation tests were similar to other subjects with gonadal disgenesis. However a low response of growth hormone to insulin tolerance test, showed in this case, suggest the necessity to early supply a sufficient replacement of therapy.
    [Abstract] [Full Text] [Related] [New Search]