Isolated adrenocorticotropin deficiency and flexion contractures syndrome.

We present a 73-year-old man with isolated adrenocorticotropic hormone deficiency and "flexion contractures" syndrome along with a review of the relevant literature. The patient initially presented anorexia, vomiting, arthralgias, malaise, and weight loss, which progressively deteriorated during the subsequent 6 months. He was admitted to the hospital with fever, confusion, severe cachexia, sinus tachycardia, low blood pressure, hyponatremia, and inability to stand or walk due to severe flexion contractures of the lower extremities (from hips to knees). The flexion contractures were not resolved by physiotherapy or diazepam administration. Due to his life-threatening condition the patient was empirically submitted to glucocorticoid replacement therapy and a remarkable relief from all the above symptoms was observed. A subsequent thorough endocrine investigation suggested the diagnosis of isolated ACTH deficiency (IAD) of unknown pathogenetic mechanism. Hence, in patients with "flexion contractures" syndrome, the pituitary adrenal axis should be evaluated.

Maltoma of the thyroid and Sjögren's syndrome in a woman with Hashimoto's thyroiditis.

We report the case of a 70-yr-old woman with maltoma of the thyroid, Sjögren's syndrome, and a history of Hashimoto's thyroiditis. The patient underwent a total thyroidectomy for a recently growing mass of the thyroid, while being treated with L-thyroxine for Hashimoto's thyroiditis. Postoperatively, routine histologic examination was consistent with the diagnosis of chronic lymphocytic thyroiditis of autoimmune etiology. Three years later, the patient presented with high temperature, anorexia, and coughing. This time, a microscopic examination of deeper thyroid tissue sections and an immunohistochemical study revealed a low-grade, non-Hodgkin lymphoma, MALT type. Simultaneously, the diagnosis of Sjögren's syndrome was established and the patient is currently under investigation for generalized lymphoma. This case clearly demonstrates the difficulty in differentially diagnosing Hashimoto's thyroiditis from low-grade MALT lymphoma by the use of routine histologic examination.

A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.

OBJECTIVE: This study aims to search for mutations in relevant genes in a woman with primary ovarian insufficiency (POI) and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: This study reports on the case of a woman with POI, BPES, and autoimmune endocrine disorder. Bidirectional sequencing of the coding regions and intron/exon boundaries of FOXL2 and BMP15 genes and hormonal assays for the measurement of follicle-stimulating hormone, luteinizing hormone, estradiol, testosterone, Δ4-androstenedione, and dehydroepiandrosterone sulfate were employed. RESULTS: A novel de novo heterozygous deletion (p.K150Rfs*121) in the FOXL2 gene was identified to coexist with two BMP15 gene variants located in the same allele (c.-9C>G; p.N103S). CONCLUSIONS: The novel, de novo FOXL2 gene mutation (p.K150Rfs*121) expands the spectrum of molecular defects identified in women with BPES. Coexisting gene variants in POI-related genes, such as BMP15, may act synergistically and explain the observed phenotypic variability in women with BPES (ie, BPES with or without POI). The concept of digenic inheritance suggested herein has been previously introduced for other nosologies such as hypogonadotrophic hypogonadism. Endocrine autoimmunity might also contribute to the POI phenotype.

Isolated pituitary granuloma by atypical Mycobacterium in a nonimmunosuppressed woman.

A 32-year-old woman presented with a 10-day history of fever (38.0 degrees C), headaches, nausea, vomiting and a 6-month history of diabetes insipidus and amenorrhoea. Two months previously she had undergone a surgical drilling of the right mastoid area because of mastoiditis. Endocrine investigation showed elevated serum prolactin levels, secondary adrenal and gonadal failure and a normal thyroid function. Cranial MRI scan revealed a contrast enhancing intrasellar mass (approximately 2 cm) of heterogeneous appearance with suprasellar extension and thickening of the pituitary stalk. Lumbar puncture was suggestive of aseptic meningitis. The Ziehl-Neelsen stain of cerebrospinal fluid (CSF) and the tuberculin skin test were both negative. The pituitary mass was removed with a transsphenoidal approach. Histological examination demonstrated destruction of the adenohypophysis by epithelioid granulomas with partial caseous necrosis and microabscess formation, suggestive of a mycobacterial infection. A polymerase chain reaction analysis performed on paraffin-embedded tissue was positive for mycobacterial DNA. According to the individual 16S sequence, it was identified as Mycobacterium malmoense, an atypical nontuberculous mycobacterium (NTM). In conclusion, this is the first case of an isolated pituitary granuloma caused by an NTM infection in a nonimmunosuppressed patient.