Giant Cystic Pheochromocytoma Associated With Neurofibromatosis Type 1: A Case Report.

Pheochromocytomas are tumors that develop from the chromaffin cells of the adrenal medulla. More than 40% of cases of pheochromocytomas are associated with genetic conditions such as neurofibromatosis type 1 (NF1) or von Hippel-Lindau syndrome. Cystic pheochromocytomas are rare, generally asymptomatic, and thus of bigger size at the time of diagnosis. Surgical treatment is necessary to prevent cardiovascular morbidity and malignancy risk. We report the case of a 27-year-old patient admitted for further examination of a left adrenal mass that was discovered by an abdominal CT scan in the context of abdominal pain associated with hypertension evolving for three years. The clinical examination showed the presence of multiple café au lait spots, axillary and inguinal freckling with two dermal neurofibromas diagnosed clinically, as well as Lisch nodules on bilateral ophthalmic examination, thus meeting the clinical criteria for the diagnosis of NF1. The clinical laboratory investigation showed elevated urinary metanephrine and normetanephrine levels. CT scan examination showed a 10 cm left adrenal cystic mass on abdominal CT. This mass uptake of the radioligand in metaiodobenzylguanidine (MIBG) scintigraphy without secondary extra-adrenal localization allowed the diagnosis of a seemingly benign cystic pheochromocytoma to be made. The patient was put on presurgical drug preparation with volume expansion and then underwent left unilateral adrenalectomy. The histopathological study was in favor of a rather aggressive cystic pheochromocytoma with a pheochromocytoma of the adrenal gland scaled (PASS) score of 9. Blood pressure and urine catecholamines at seven days, three months, six months, and one year after surgery were normalized. Cystic pheochromocytoma is a rare tumor with a potentially poor prognosis. It is characterized by a more insidious evolution and a larger volume at diagnosis. It should be considered a diagnosis in patients with a cystic adrenal mass or an extra-adrenal mass with fluctuating blood pressure during surgery. This case illustrates the importance of both presurgical preparation and screening for pheochromocytoma in neurofibromatosis type 1.

Oncocytic Tumors: An Uncommon Benign Adrenal Gland Lesions With Features of Malignancy.

Oncocytic cell neoplasms are usually found in the thyroid or salivary glands and the kidneys. Adrenal oncocytoma (AO) is an extremely rare localization. It is often non-functional and the suspicion of malignancy is considered when the size of an adrenal incidentaloma is greater than 4 cm. These adrenal oncocytomas, however, are large, round, and encapsulated with a benign presentation and evolution. We report on a 40-year-old male patient. Upon suspicion of a SARS-CoV-2 infection, the general physician instructed a chest CT scan, which, fortuitously, revealed a suspicious left adrenal lesion measuring 62x45mm. A biochemical investigation was negative for either pheochromocytoma or Cushing's syndrome, allowing the recommended surgery to be performed. The anatomopathological analysis showed an uncommon benign adrenal lesion, an adrenal oncocytoma.

Testicular Regression Syndrome: Two Case Studies.

Testicular agenesis, also called testicular regression syndrome (TRS), is a rare disease. It is defined by the complete absence of testicular tissue associated with a 46,XY karyotype. The phenotype is variable depending on when gonadal regression occurs in utero. Several etiologies have been identified. Here, we report two cases of TRS with an initial diagnosis of cryptorchidism and bilateral impalpable testes. The hormonal assessment showed an undetectable anti-Müllerian hormone (AMH) level and high gonadotropins. Also, radiological exploration did not show the testicles in a normal position, which was confirmed by a negative laparoscopy, establishing the diagnosis of TRS. Androgen replacement therapy along with psychological support to the patient is recommended is such cases.

Rare and Atypical Case of Turner Syndrome With Three Cell Lines.

Turner's syndrome is a rare complex genetic disease characterized by gonadal dysgenesis and sexual chromosomal abnormalities. Half of the patients affected are monosomic, for the X chromosome, and for the remaining patients, a variety of chromosomal abnormalities have been reported. Only a small percentage (3%-4%) of people with Turner syndrome have triple X cell line mosaicism (47, XXX). It has been reported that patients 45, X/47, XXX have normal intelligence, a higher rate of spontaneous menstruation, an increased number of pregnancies, and a lower frequency of short stature (60%) compared to patients 45, X. In this work, we will present a rare and atypical case of a patient who presents a rare chromosomal mosaicism, with three chromosomal lineages, contrasting with a typical clinical picture of Turner syndrome.