Beyond Binary: Gender Reassignment in a Case of 11ß-Hydroxylase Deficiency.

Congenital adrenal hyperplasia (CAH) encompasses a spectrum of disorders characterized by enzyme deficiencies in the hormone biosynthesis pathways of the adrenal glands, resulting in impaired cortisol synthesis. These disorders are typically inherited in an autosomal recessive pattern. Numerous enzymes participate in the hormonal synthesis within the adrenal glands, and the clinical presentation of affected individuals exhibits significant variability, contingent upon the specific enzyme deficiency and its severity. In this case, we present a compelling instance of 11ß-hydroxylase deficiency (11ßOHD). The patient initially presented as a male, with complaints of early-onset hypertension and intermittent hematuria. He had a history of precocious puberty and had experienced a progressive increase in breast size. Subsequently, the patient was found to have an XX karyotype, and a pelvic ultrasound revealed the presence of a uterus, two ovaries, and a rudimentary vagina. Gender reassignment surgery was done to this patient. This intricate case underscores the critical importance of promptly recognizing and effectively managing CAH. Timely and appropriate treatment is pivotal in ensuring the well-being of affected individuals.

An Incidental Finding of a Gastrointestinal Stromal Tumor in a 62-Year-Old Male: A Case Report.

Gastrointestinal stromal tumors (GISTs) are uncommon GI tract cancers that develop from immature mesenchymal cells. It might be difficult to get an early diagnosis of people with small bowel GISTs, which can cause delays in therapy. We present here a case of a 62-year-old male with an incidental finding of a small intestine GIST during the workup for umbilical hernia. He presented with swelling above the umbilicus for the past six months that was progressive in nature and not associated with pain. Computer tomography (CT) of the abdomen with intravenous contrast revealed a heterogeneously enhancing mass lesion in the left paraumbilical intraperitoneal region, and immunohistochemistry results of the CT-guided biopsy showed a GIST. The patient underwent excision of the tumor with segmental resection and anastomosis, and supraumbilical hernia repair. Chemotherapy (imatinib for three years) after suture removal was planned for him.