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. 2023 Apr 5;38(6):1224–1230. doi: 10.1093/humrep/dead066

Table I.

Number of chromosomal abnormality and congenital malformation diagnoses among 5011 women with premature ovarian insufficiency (POI) reported in the Hospital Discharge Register during the follow-up period.

n %
Genetic disorders

Turner syndrome 256 5.13
Autosome chromosomal abnormalities 35 0.70
Sex chromosome abnormalities* 44 0.88
Autosomal single-gene disorders 28 0.56
Other chromosomal abnormalities 5 0.10

Congenital malformations of gynaecological organs

Congenital malformations of the ovary, fallopian tubes and broad ligaments 101 2.02
Congenital malformations of the uterus and cervix 47 0.94
Other congenital malformations of female genitalia 19 0.38

Other congenital malformations

Skin and mammary gland anomalies 57 1.14
Congenital malformations of the nervous system 31 0.62
Congenital malformations of the eye, ear, face, and neck 84 1.68
Congenital malformations of the circulatory system 120 2.41
Cleft lip and cleft palate 20 0.40
Other congenital malformations of the digestive system 47 0.94
Congenital malformations of the urinary system 42 0.84
Congenital malformations and deformations of the musculoskeletal system 197 3.95
Unspecified congenital malformations 45 0.90
Disorder of sexual differentiation/development 7 0.1
Congenital malformations of the respiratory system 9 0.2
Congenital malformation syndromes due to known exogenous causes 1–4 <0.1
Congenital malformations of spleen or endocrine glands 1–4 <0.1
*

Turner syndrome excluded.