Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences.

Objective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.

Methods: A 36-year-old male (birth sex: female) presenting with bilateral PEs in the setting of long-standing, untreated classic 21OH CAH was also found to have bilateral adrenal masses (unconfirmed myelolipomas).

Results: Further history revealed a known diagnosis of CAH.

Acute pancreatitis in primary hyperparathyroidism: a population-based study.

Context: The association between acute pancreatitis and primary hyperparathyroidism (PHPT) is controversial.

Objective: The aim of the study was to address the incidence and disease characteristics of acute pancreatitis in PHPT from a large inception cohort of community residents.

Design And Setting: Patients with acute pancreatitis were identified in an Olmsted County, Minnesota, cohort of PHPT subjects diagnosed from 1965-2001 and compared to matched control subjects.

Evidence for enhanced Thy-1 (CD90) expression in orbital fibroblasts of patients with Graves' ophthalmopathy.

Background: Thy-1 is a surface protein that defines functionally distinct subpopulations of fibroblasts, with those lacking the antigen being capable of adipogenesis. Because increased fat cell development is a hallmark of the orbit in Graves' ophthalmopathy (GO), we wished to compare baseline Thy-1 expression in orbital fibroblasts from GO patients and normal individuals, and determine whether levels of the protein might be impacted by adipogenesis following peroxisome proliferator activator-gamma ligation.

Methods: Orbital adipose/connective tissue specimens were obtained from euthyroid patients undergoing orbital decompression surgery for severe GO (n = 9) and from normal individuals (n = 9).

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

Familial hypercholesterolemia (FH) is the most common form of autosomal-dominant hypercholesterolemia, and is caused by mutations in the low-density lipoprotein receptor (LDLR) gene. Heterozygous FH is characterized by elevated low-density lipoprotein (LDL) cholesterol and early-onset cardiovascular disease, whereas homozygous FH results in more severe LDL cholesterol elevation with death by 20 years of age. We present here the case of an African-American female FH patient presenting with a myocardial infarction at the age of 48, recurrent angina pectoris and numerous coronary artery stents.

Pathogenesis of Graves' ophthalmopathy: the role of autoantibodies.

The clinical manifestations of Graves' ophthalmopathy (GO) stem from a combination of increased orbital fat and extraocular muscle volume within the orbital space. Fibroblasts residing within orbital tissues are thought to be targets of autoimmune attack in the disease. Thyrotropin receptor (TSHr) mRNA and functional protein have been demonstrated in orbital fibroblasts from both normal individuals and GO patients, with higher levels present in the latter.

Fluoride-related bone disease associated with habitual tea consumption.

Acquired osteosclerosis is a rare disorder of bone formation but an important consideration in adults with sclerotic bones or elevated bone density results. In such patients, malignancy, hepatitis C, and fluorosis should all be considered when making a diagnosis. We describe 4 patients evaluated at our Metabolic Bone Disease Clinic from May 1, 1997, to July 1, 2006, whose bone disorders resulted from chronic fluoride exposure due to excessive tea intake.