Endocrine Abstracts

JOINT2405

Introduction: An inversion of chromosome 9 is a change in the structure of a chromosome caused by a 180° rotation of one of its internal sections. It is the result of two simultaneous breaks in a given chromosome. It is not known where the break occurs, and which nucleotide sequences change during this process. The prevalence of this karyotype feature is 1-3% of the total population. A clinical case. The patient went to the doctor in November 2024 at the medical center of Endocrinology of in Tashkent, Uzbekistan, complaining of an absence of menstruation. From the medical history: the patient was born in 2010 with a weight of 3100 grams with a normal pregnancy. Since birth, she has been under the supervision of an orthopedist with a diagnosis of congenital dislocation of the hip joint. In September 2024, uterine hypoplasia was detected at a medical examination at the school and was sent for further follow-up to the endocrinology center. An objective examination by a gynecologist-endocrinologist revealed that the external genitalia corresponded to the female sex. Mammary glands and secondary hair were poorly developed. Sexual development according to Tanner: Ax-1, Pb-2, Ma-2, Me-0. Her body type was normosthenic, with a shortened torso and a massive lower jaw. Laboratory data showed a significant decrease in hormone levels: Androstenedione 0.39 ng/ml, Sex hormone binding Globulin 108 nmol/l, LH 0.03 mIu/ml, Progesterone 0.46 ng/ml, Prolactin 2.71 ng/ml, Testosterone 0.13 nmol/l, Estradiol 12.9 pmol/l, Free Androgen index 0.12 %. The level of FSH was within the normal range - 4.88 mIu/ml. Instrumental studies have shown on ultrasound of the uterus and appendages a decrease in the volume of the uterus (infantile uterus 3-4 grade) and on MRI of the pelvic organs - MRI-signs of hypoplasia of the uterus. Based on the results of the geneticist’s observation, karyotyping was performed, where cytogenetic examination data showed Karyotype XX, inv 9 (p12;q13) and based on the results of all laboratory and instrumental studies and the geneticist’s conclusion, the final diagnosis was made: Hypogonadotropic hypogonadism (chromosomal aberration, inversion of chromosome 9 p12;q13). Complication: Primary amenorrhea. Delayed sexual development.

Conclusions: The patient is currently receiving hormone replacement therapy, vitamin therapy, and she is under the supervision of an endocrinologist and gynecologist. It is recommended to follow up again after 3 months, follow a healthy lifestyle, regular physical activity, and a balanced diet.