The effect of genetic differences and ovarian failure: Intact cognitive function in adult women with premature ovarian failure versus turner syndrome

Judith L. Ross, Gerry A. Stefanatos, Harvey Kushner, Carolyn Bondy, Lawrence Nelson, Andrew Zinn, David Roeltgen

Research output: Contribution to journalArticlepeer-review

52 Scopus citations


Premature ovarian failure (POF) is generally defined as amenorrhea, hypoestrogenism, and elevated gonadotropins occurring in a woman before the age of 40 yr. Usually, the etiology is unknown. Turner syndrome (TS, monosomy X), also associated with ovarian failure, has a characteristic neurocognitive profile. TS females, as a group, have specific deficits in visual-spatial abilities, visual-perceptual abilities, motor function, nonverbal memory, executive function, and attentional abilities. Observed deficits in TS could be due to endocrine (estrogen deficiency) or genetic factors. If early estrogen deficiency contributes to the cognitive deficits in TS, women with POF would also be at risk for similar findings. The objective of this work was to examine the specific cognitive profile in women with POF and compare it with women with TS and normal female controls. We compared two unique populations (women with POF vs. TS), both with earlier estrogen deficiency. The TS group only had a major genetic deficiency, absence of all or part of one X chromosome. We evaluated the cognitive performance of estrogen-repleted women with POF (n = 89), compared with verbal IQ-and socioeconomic status-matched females with TS (n = 94) and controls (n = 96). Performance by the POF population was similar to that of controls and differed from the TS population. In contrast, TS adults had relative difficulty with measures of spatial/perceptual skills, visual-motor integration, affect recognition, visual memory, attention, and executive function. These deficits are apparent in TS women, despite apparently adequate estrogen treatment. The cognitive phenotypes of women with POF and normal controls are similar and differ from women with TS, indicating that prior estrogen deficiency does not have a major impact on cognitive function in adult females. The genetic deficiencies of women with TS most likely account for their specific cognitive phenotype.

Original languageEnglish (US)
Pages (from-to)1817-1822
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Issue number4
StatePublished - Apr 2004

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical


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