| Abstract [eng] |
Aim: to identify the rare causes of isolated hypogonadotropic hypogonadism in patients treated at Vilnius University Hospital Santaros Clinics in 2012-2022, and to evaluate the methods and tools used for the diagnosis and treatment of isolated hypogonadotropic hypogonadism. Objectives: 1. To determine the rare causes of isolated hypogonadotropic hypogonadism in the studied patients; 2. To evaluate the sexual maturation, functional and laboratory parameters caused by isolated hypogonadotropic hypogonadism; 3. To determine the applied diagnostic methods, the importance of ultrasound examination; 4. To evaluate the treatment tactics of the studied patients depending on the cause of isolated hypogonadotropic hypogonadism. Methods: a retrospective study was performed at the Obstetrics and Gynecology Center of Vilnius University Hospital Santaros Clinics. Study participants: In 2012-2022, the Department of Obstetrics and Gynecology examined patients aged 15-29 years with rare causes of isolated hypogonadotropic hypogonadism, excluding cases of delayed puberty, hypopituitarism and functional hypothalamic amenorrhea. Results: thirteen patients aged 15 to 29 years at the first visit were selected for analysis. Primary amenorrhea was found in 61.5 % (8) of subjects and in 38.5 % (5) of subjects secondary amenorrhea. Causes of isolated hypogonadotropic hypogonadism were identified in 46.2% (6) of cases. The latter included pituitary adenoma, Kallman syndrome, changes in the brain, cerebral palsy and genetic changes. The main complaints of patients were: absence or disappearance of menstruation 100% (13), delayed puberty 15.4% (2), headache, nausea and hot flushes 7.6% (1), episodic weakness 7.6% (1). Within the body mass index norm, 53,8 % (7) of patients were found to be overweight, 30.8% (4) were underweight, and 23.1% (3) were underweight. In the assessment of bone mineral density, osteoporosis was observed in 15.4% (2) of cases and osteopenia in 7.6 % (1). Concentrations of gonadotropins luteinizing and follicle stimulating hormones were below the lower limit of normal in 92.3 % (12) of cases. Conclusions: 1. Causes of isolated hypogonadotropic hypogonadism were identified in seven patients. These included pituitary adenoma and other structural changes in the brain, Kallman syndrome, cerebral palsy, and genetic alterations. The origin of isolated hypogonadotropic hypogonadism in the remaining patients remains unclear, despite the genetic studies currently available. 2. In the assessment of sexual maturation, eleven out of the thirteen subjects were observed to have slowed breast development and insufficient development of sexual hair in nine patients, due to the deficiency of steroid hormones in these patients. The main complaint of patients is primary or secondary amenorrhea. Changes in bone mineral density were observed in three cases. All thirteen patients had luteinising, follicle-stimulating hormone levels below the lower limit of normal, two had decreased estradiol levels, and eight had elevated prolactin levels. 3. Pelvic ultrasound, hormonal examinations, brain magnetic resonance imaging, bone densitometry, and karyotype examination are essential for the diagnosis and differentiation of isolated hypogonadotrophic hypogonadism. Pelvic ultrasound allows assessment of internal genital development and cyclic changes however it is not necessary to confirm the diagnosis of the condition. In our study, three patients were found to have internal genital malformations and two patients were found to have internal genitals of pre-maturiation age. 4. The main tactics for the treatment of hypogonadotropic hypogonadism are cyclic replacement sex hormone therapy to ensure sexual maturation, internal genitalia formation and the prevention and treatment of estrogen-deficient osteopenia and osteoporosis. |
