On May 6, 2023, a 30-year-old woman was admitted to our hospital. The patient self-reported that there was no obvious inducement for slender limbs and abnormal height growth rate 15 years ago. Before the age of 16, the height was about 140 cm, and then the height began to grow so far. It has been in a state of growth, and the annual growth rate is unknown. The patient ‘s limbs were slender, bilateral eye fissures widened, secondary sexual characteristics were not developed, and there was no history of menstruation. The patient was treated in the outpatient department of endocrinology of our hospital in 2016. At that time, the results of color Doppler ultrasound examination of uterus and appendages in other hospitals showed no echo of uterus and appendages in pelvic cavity, and the results of magnetic resonance imaging of pituitary saddle area suggested pituitary stalk interruption syndrome. The patient ‘s parents are cousins and belong to consanguineous marriage. The patient was 180 cm in height and 72 kg in weight at admission. The patient was admitted to the hospital to improve the relevant test, and the test results are shown in. Pituitary MRI plain scan and enhanced scan at admission suggested pituitary stalk interruption syndrome (). The bone age of the right wrist showed that the patient was not fully mature (). Pelvic magnetic resonance plain scan showed absence of uterus and bilateral ovaries (). Chest CT scan showed a few small nodules in both lungs, and bone mineral density examination showed low bone mass. Thyroid ultrasound showed diffuse thyroid lesions. Conventional electrocardiogram showed sinus rhythm, left chest lead QRS low voltage. In order to clarify the etiology of the patient, the patient underwent peripheral blood chromosome karyotype examination and analysis. The karyotypes of 120 cells were analyzed. The results showed that one was a homologous chimeric karyotype, and the cell line had only one X chromosome and three cells were found. Another cell line was a normal female karyotype, and 117 cells were found. The karyotype of the patient was 45, X[3] / 46, XX [117]. In order to further guide hormone replacement therapy, the patient underwent hypoglycemia provocation test and Gonadorelin test. Hypoglycemia provocation test showed growth hormone and cortisol deficiency in patients (). The patient ‘s Gonadorelin test suggested hypogonadism ().