Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders.
OBJECTIVE
To determine the prevalence of triple X females among patients with premature ovarian failure and to describe the clinical features of the syndrome.


METHODS
Case report.


METHODS
Tertiary care hospital.


METHODS
Fifty-two consecutive patients with secondary amenorrhea due to premature ovarian failure and no clinical stigmata of Turner's syndrome.


METHODS
Triple X syndrome and clinical features, as assessed by karyotype analysis using Giemsa trypsin banding of metaphase chromosomes.


RESULTS
Two of the 52 patients with premature ovarian failure had triple X syndrome. Both cases had associated autoimmune thyroid disorder. One of the women with triple X syndrome had two pregnancies that were complicated by premature birth, idiopathic thrombocytopenia, neonatal death, and occipital encephalocoele.


CONCLUSIONS
Among patients with premature ovarian failure, 3.8% have triple X syndrome. The syndrome may be associated with autoimmune thyroid disorder and poor pregnancy outcome due to congenital malformation.
Goswami
Ravinder
R
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India. gosravinder@hotmail.com
Goswami
Deepti
D
Kabra
Madhulika
M
Gupta
Nandita
N
Dubey
Sudhisha
S
Dadhwal
Vatsala
V
D000328:Adult; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D010641:Phenotype; D011247:Pregnancy; D011256:Pregnancy Outcome; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000706:statistics & numerical data*; D013577:Syndrome; D013967:Thyroiditis, Autoimmune / Q000235:genetics*