Endocrine Abstracts

JOINT2576

Turner syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) are congenital conditions that affect female reproductive development. The presence of these two syndromes in a person is very rare in our clinical work, but they remain one of the most main causes of primary amenorrhea. So, Turner syndrome is responsible for short stature, gonadal dysgenesis and cardiovascular abnormalities. On the other part, MRKH is characterized by congenital aplasia of the uterus and upper two-thirds of the vagina. Our case is about a 14 year old female that came in the Specialty Polyclinic Nr.3 in Tirana with two main complaints, the absence of menstrual cycle (primary amenorrhea) and short stature. During the physical examination, was observed the lack of secondary sexual characteristics, webbed neck, short stature. Hormonal analyses revealed hypergonadotropic hypogonadism: LH 25.7mUI/ml [2.4-12.6]; FSH 94.8mUI/ml [3.5-12.5]; estradiol<5 pg/ml [<91 pg/ml]; Progesterone 0.073ng/ml [0.2-1.5], low value of GH and somatomedin C: IGF-1 200ng/ml [191-496]; subclinical hypothyroidism:TSH 4.92 uUI/ml [0.51-4.3]. Karyotype examination showed the mosaicism pattern of Turner syndrome 45,X/47,XXX. Radiological examination like pelvic ultrasound and magnetic resonance (MRI) demonstrated ovary and uterus agenesia, also the absence of upper vagina. After these examinations and the multidisciplinary consultations, the patient was diagnosed with a rare combination of Turner syndrome and MRKH syndrome. The treatment consisted in the hormone replacement therapy like: somatotropin, gonadotropin and levothyroxine. In conclusion, reported cases with the combined presence of Turner and MRKH syndromes are unusual and rare. For appropriate diagnosis and treatment is necessary the multidisciplinary collaboration and management, including endocrinologist, pediatrician endocrinologist, gynecologist, geneticist and psychological care.