Macroadenoma is a tumor that typically develops in the epithelial cells of the pituitary gland. Patients suffering from the condition are often asymptomatic with complaints that are caused by hormonal imbalance. Therefore, chromosome analysis needs to be done to females aged >16 years presenting with amenorrhea. Karyotype 46,XY is a disorder of sex development (DSD) that is caused by the complex process of gene interactions, androgen synthesis, and hormone regulation. The patient initially came to the hospital for a scheduled transsphenoidal surgery due to pituitary macroadenoma, and later complained of primary amenorrhea and atypical external genital. Furthermore, physical examination of genitalia revealed mild clitoromegaly without obvious introitus vagina. Laboratory testing showed elevated prolactin and testosterone level, while ultrasonography imaging revealed the absence of the uterus and ovaries. The brain magnetic resonance imaging (MRI) demonstrated a pituitary adenoma, and cytogenetic analysis showed 46,XY karyotype. Subsequently, hyperprolactinemia, imaging, and histopathology examination were used to confirm pituitary macroadenoma in the patient. It was assumed that the undermasculinized genitalia was caused by hormonal disorders including the deficiency of androgen action or 5-alpha-reductase enzyme. 46,XY DSD has many different symptoms, hence, clinicians need to be aware of potential multifactorial aetiologies. Imaging of internal genitalia, hormonal and chromosomal analysis should be carried out to assess patients with unknown causes of the disorder. Molecular analysis needs to be carried to exclude the possible gene mutation.
Keywords: Disorder of sex development (DSD); pituitary macroadenoma; primary amenorrhea.