Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve

Table 1 Clinical characteristics of the DOR patient

Clinical features
Age(y)	27
History of infertility(y)	3
Menstrual cycle	normal
Physical examination
BMI(kg/m²)	22.59
External genitalia	normal
Secondary traits	normal
Antral follicle count (AFC)	3*
Somatic karyotype	46, XX
FMR1 CGG repeats	normal
Sex hormone levels
Follicle-stimulating hormone (mIU/mL)	29.86*
Luteinizing hormone (mIU/mL)	4.67
Testosterone (ng/mL)	0.3
Estradiol (pg/mL)	2.29
Prolactin (ng/mL)	12.98
Anti-mullerian hormone(ng/mL)	0.54*

This table summarizes the clinical characteristics of a patient with diminished ovarian reserve (DOR). The patient‘s age, history of infertility, menstrual cycle, physical examination results, antral follicle count, somatic karyotype, and sex hormone levels are included. *indicates outside the normal range. Normal range of AFC: 7–20; Follicle-stimulating hormone: 3–12 mIU/mL; Anti-mullerian hormone: 1.39-6.42ng/mL

ISSN: 1477-7827