Natalia Rzewuska

Rathke cleft cysts (RCCs) are rare non-neoplastic lesions of the pituitary gland. Usually, these cysts are small and remain asymptomatic clinically. For unknown reasons, in some cases, RCCs enlarge and cause symptoms such as headaches, visual disturbances, and pituitary gland dysfunctions. The literature lacks comprehensive reviews or guidelines that summarize clinicians’ knowledge about hormonal assessment in symptomatic cases. We present a review of the literature focused on symptomatic cases of RCCs, manifesting with hormonal imbalance. Hormonal symptoms occur in 19.4–81% of symptomatic cases. The most common hormonal dysfunction is hyperprolactinemia, found in even 46% of cases, and the second most frequent is hypogonadism. The improvement after surgery is hesitant, between 19% and 67.8%, and is the worst in secondary hypothyroidism. In the pediatric patient group, hormonal dysfunctions are the most common presentation of such a lesion. Dysfunction of the posterior pituitary gland in the course of symptomatic RCCs can result in treatment-resistant arginine vasopressin deficiency and syndrome of inappropriate antidiuretic hormone secretion. It should be emphasized that among the endocrine disorders of RCCs in young premenopausal women, menstrual disorders and related fertility problems are prevalent. Irregular menstrual cycles or amenorrhea are reported in up to 17% of symptomatic RCCs. Endocrinologists and neurosurgeons must be acutely aware of hormonal imbalances in RCCs and conduct hormonal evaluations in every case of symptomatic RCC to enhance the management of these lesions. Guidelines for managing symptomatic cases of RCC are necessary to improve patient care and outcomes.

Leiomyomas are common lesions that are usually located in the genitourinary and gastrointestinal tracts. Primary leiomyomas at the skull base are uncommon. They are composed of well-differentiated smooth muscle cells without cellular atypia. The diagnosis of a leiomyoma has to be confirmed by immunohistochemistry. The tumor tissue is immunoreactive for SMA, S100 and cytokeratin. Leiomyomas mainly occur in immunocompromised patients. Most tumor tissues are positive for EBV. The presented case is that of a 56-year-old immunocompetent woman with a tumor on the clivus. The radiological images suggested chordoma or fibrous dysplasia. Transnasal transsphenoidal surgery was performed. The tumor tissue consisted of well-differentiated smooth muscle cells with elongated nuclei. Immunohistochemistry revealed a positive reaction for desmin, SMA and h-Caldesmon and a negative reaction for S100, beta-catenin, PGR and Ki67. The leiomyoma diagnosis was subsequently established. To the best of our knowledge, the case of a primary leiomyoma on the clivus of an immunocompetent patient is the first to be described. We also extensively reviewed the literature on the immunohistopathological and radiological differential diagnosis of clival lesions.

DOI: 10.20452/pamw.16181, Published online: December 22, 2021, Authors: Jacek Kunicki, Natalia Rzewuska, Michał Kunicki, Paweł Rogala, Michał Wągrodzki

The pituitary is an organ of dual provenance: the anterior lobe is epithelial in origin, whereas the posterior lobe derives from the neural ectoderm. The pituitary gland is a pivotal element of the axis regulating reproductive function in mammals. It collects signals from the hypothalamus, and by secreting gonadotropins (FSH and LH) it stimulates the ovary into cyclic activity resulting in a menstrual cycle and in ovulation. Pituitary organogenesis is comprised of three main stages controlled by different signaling molecules: first, the initiation of pituitary organogenesis and subsequent formation of Rathke’s pouch; second, the migration of Rathke’s pouch cells and their proliferation; and third, lineage determination and cellular differentiation. Any disruption of this sequence, e.g., gene mutation, can lead to numerous developmental disorders. Gene mutations contributing to disordered pituitary development can themselves be classified: mutations affecting transcriptional determinants of pituitary development, mutations related to gonadotropin deficiency, mutations concerning the beta subunit of FSH and LH, and mutations in the DAX-1 gene as a cause of adrenal hypoplasia and disturbed responsiveness of the pituitary to GnRH. All these mutations lead to disruption in the hypothalamic–pituitary–ovarian axis and contribute to the development of primary amenorrhea.