Clinical trial NCT00471731: Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure
Official title: Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Turner Syndrome
Ovarian Failure, Premature
Sex Chromosome Aberrations
Menopause
Perimenopause
Keywords: Ocular Surface Disease
Imprinting
Eye Abnormalities
Ovarian Insufficiency
Women's Eye Health and Disease
Turner Syndrome
TS
Premature Ovarian Failure
POF
Healthy Volunteer
HV
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2007-05-10
Enrollment: 72
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Time perspective: PROSPECTIVE

Brief summary: Premature ovarian failure (POF) is known to be associated with an increased risk of ocular surface disease (dry eye), likely due to the reduction of both estrogens and androgens seen in this condition. From preliminary data, we suspect that women with Turners syndrome (45, XO), a genetic abnormality that affects sex hormone levels, are also at increased risk of ocular surface disease. Comparing POF and TS women may allow us to distinguish different mechanisms for ocular surface disease, due to the different etiologies of hormonal (estrogen and androgen) alterations posed by POF and TS.

Detailed description: Premature ovarian failure (POF) is known to be associated with an increased risk of ocular surface disease (dry eye), likely due to the reduction of both estrogens and androgens seen in this condition. From preliminary data, we suspect that women with Turners syndrome (45, XO), a genetic abnormality that affects sex hormone levels, are also at increased risk of ocular surface disease. Comparing POF and TS women may allow us to distinguish different mechanisms for ocular surface disease, due to the different etiologies of hormonal (estrogen and androgen) alterations posed by POF and TS.

Eligibility criteria: * INCLUSION CRITERIA:

  1. Ability to understand and give informed consent.
  2. Meet the diagnostic criteria for TS (45, X0) or premature ovarian failure OR age matched control for study participant with TS or POF.
  3. For non Turner syndrome subjects only - Negative pregnancy test or post menopausal status for greater than or equal to 1 year.
  4. Karyotype of XO for TS subjects or XX for POF and age matched control subjects.

EXCLUSION CRITERIA:

1. Persons less than 18 years old.
2. Persons with ophthalmic diseases associated with ocular surface disease.
3. Hyperprolactinemia.
4. Cushing s syndrome.
5. Other endocrine disorders which impact sex steroid hormones.
6. AIDS
7. Pregnancy or lactation.
8. For age matched control population ONLY- complaints of dry eye.
9. For age matched control population ONLY- oral contraceptives or menopausal hormone therapy or any medications which alter sex hormone levels in the blood or chronic usage of medications that induce dry eye.

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Institutes of Health Clinical Center, 9000 Rockville Pike
state: Maryland
Study officials:
affiliation: National Eye Institute (NEI)
name: Janine A Clayton, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Smith JA, Vitale S, Reed GF, Grieshaber SA, Goodman LA, Vanderhoof VH, Calis KA, Nelson LM. Dry eye signs and symptoms in women with premature ovarian failure. Arch Ophthalmol. 2004 Feb;122(2):151-6. doi: 10.1001/archopht.122.2.151.
citation: Schaumberg DA, Buring JE, Sullivan DA, Dana MR. Hormone replacement therapy and dry eye syndrome. JAMA. 2001 Nov 7;286(17):2114-9. doi: 10.1001/jama.286.17.2114.
citation: Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986 Apr;67(4):604-6.