Gonadal and müllerian duct agenesis in a girl with 46,X,i(Xq)

A unique case of gonadal agenesis and rudimentary müllerian duct development in association with a 46,X,i(Xq) karyotype is reported. The patient presented with short stature and subtle features of Turner syndrome. Endocrine evaluation revealed elevated gonadotropins and cytogenetic findings from bot...

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Published inObstetrics and gynecology (New York. 1953) Vol. 63; no. 3 Suppl; p. 81S
Main Authors De Leon, F D, Hersh, J H, Sanfilippo, J S, Schikler, K N, Yen, F F
Format Journal Article
LanguageEnglish
Published United States 01.03.1984
Subjects
Cervix Uteri - abnormalities
Child
Female
Gonadal Dysgenesis - diagnosis
Gonadal Dysgenesis - genetics
Gonadal Dysgenesis - pathology
Humans
Karyotyping
Mullerian Ducts - pathology
Sex Chromosome Aberrations - diagnosis
Turner Syndrome - diagnosis
Uterus - abnormalities
X Chromosome
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Summary:A unique case of gonadal agenesis and rudimentary müllerian duct development in association with a 46,X,i(Xq) karyotype is reported. The patient presented with short stature and subtle features of Turner syndrome. Endocrine evaluation revealed elevated gonadotropins and cytogenetic findings from both peripheral blood leukocytes and skin fibroblasts were consistent with a 46,X,i(Xq) karyotype. Laparoscopy revealed both uterus and gonads to be absent. Developmental failure of the müllerian system in association with gonadal agenesis in a patient with 46,X,i(Xq) has not been previously reported. The basis for müllerian duct regression in this patient remains unclear. Recommendations for treatment are made.
ISSN:0029-7844
1873-233X