P44 - A strange case of primary amenorrhea

Introduction Primary amenorrhea, defined as the absence of menarche after the age of 15 or three years after the development of secondary sexual characteristics, may be due to constitutional delays or treatable conditions such as polycystic ovary syndrome or thyroid disorders. However, it may underlie much more complex pathologies, such as genital malformations, hypothalamic-pituitary disorders or primary ovarian failure, which require a more timely and accurate diagnosis. Case description B.M. is a 16-year-old patient who came to our attention for primary amenorrhea. Her medical history shows normal psycho-physical development, telarche and pubarche at 11 years of age, virgo, mild mental retardation since birth, congenital clubfoot already corrected surgically, and scoliosis. Objectively: shorter than expected height and first-degree central obesity (BMI 32 kg/m2), widespread acne, no hirsutism, pink striae on the abdomen and hips, normal external genitalia. Transabdominal pelvic ultrasound showed reduced uterine volume with homogeneous echostructure, no visible endometrial echoes, microfollicular ovaries, regular in size. The requested tests showed normal levels of gonadotropins, oestradiol, 17OH- progesterone, total testosterone, prolactin, blood sugar, insulin, IGF-1 and Nugent test, but subclinical hypothyroidism with positive anti-TPO antibodies was found. Suspecting a uterine-vaginal malformation, genetic screening was performed using the Array-CGH technique, which revealed a microdeletion in the 16p11.2 region encoding the TBX6 gene, compatible with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). This mutation is also associated with other neuropsychiatric and metabolic disorders and possible skeletal, ocular, auricular, cardiac and cerebral malformations. Screening for these complications confirmed the known dorsal scoliosis and revealed conductive hearing loss on audiometric examination. Conclusions MRKH is a rare congenital condition, with a prevalence of 1/5000 live births. It is characterised by aplasia of the uterus and the upper 2/3 of the vagina, while ovarian function is preserved, allowing for normal development of secondary sexual characteristics. In addition to the isolated form (MRKH type I), there is another form associated with skeletal, renal, auditory and cardiac abnormalities (MRKH type II), as in the case of our patient. The correct diagnostic classification of primary amenorrhea is essential to identify any underlying syndromic conditions associated with extra- genital problems that warrant early and periodic evaluation.