Reply to Hsu.
Year: 1996
Type: letter
Abstract: Thank you for the opportunity to respond to Dr. Hsu`s letter. Hsu rightly points out that the major features of Turner syndrome - short stature and sexual infantilism or gonadal dysgenesis - are not manifested until later childhood or adolescence. This makes interpretation of outcome data that are based only on features seen at birth problematic at best. In her excellent chapter to which she refers, the information provided regarding the outcome of the prenatal diagnosis of 45,X/46,XX Turner syndrome, in its entirety, is as follows: 189 cases of 45X,/46,XX were diagnosed. There was information regarding phenotypic outcome in 114 of these. Twelve (10.5%) had {open_quotes}some features{close_quotes} of Turner syndrome. These features were not described. Four (3.5%) had {open_quotes}other anomalies probably not related to Turner syndrome{close_quotes}. These other anomalies were not detailed. Two (1.75%) {open_quotes}resulted in stillbirths{close_quotes}. In 91 of these 114 cases, there was cytogenetic evaluation after birth. Seventy-eight of these (85.7%) had mosaicism confirmed by karyotyping of live-born or fetal tissues. There is no information regarding the indications for prenatal diagnosis (i.e., maternal age vs. fetal abnormality detected by ultrasound). There is no information regarding the age of this cohort at follow-up evaluation; by inference, some must havemore » been deemed phenotypically normal at autopsy after termination, since fetal tissue was the basis for cytogenetic confirmation. There is no information regarding either the scope of the evaluation after birth (i.e., physical examination, laboratory evaluation for ovarian function, echocardiogram or renal ultrasound, intelligence testing, or growth data) or who performed the evaluation. Thus, there is little substantive evidence to support the contention of normalcy in this cohort. 3 refs.« less
Source: PubMed Central
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W1577922892