Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study.

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and excess androgen production. The current standard of care is glucocorticoid (GC) therapy, and sometimes mineralocorticoids, to replace endogenous cortisol deficiency; however, supraphysiologic GC doses are usually needed to reduce excess androgen production. Monitoring/titrating GC treatment remains a major challenge, and there is no agreement on assessment of treatment adequacy.

Cardiovascular Disease Risk Factors and Metabolic Morbidity in a Longitudinal Study of Congenital Adrenal Hyperplasia.

Context: Patients with congenital adrenal hyperplasia (CAH) are exposed to hyperandrogenism and supraphysiologic glucocorticoids, both of which can increase risk of metabolic morbidity.

Objective: Our aim was to evaluate cardiovascular and metabolic morbidity risk in a longitudinal study of patients with CAH spanning both childhood and adulthood.

Design And Setting: Patients with classic CAH followed for a minimum of 5 years during both childhood and adulthood (n = 57) at the National Institutes of Health were included and compared with the US general population using NHANES data.

A Phase 2, Multicenter Study of Nevanimibe for the Treatment of Congenital Adrenal Hyperplasia.

Context: Patients with classic congenital adrenal hyperplasia (CAH) often require supraphysiologic glucocorticoid doses to suppress adrenocorticotropic hormone (ACTH) and control androgen excess. Nevanimibe hydrochloride (ATR-101), which selectively inhibits adrenal cortex function, might reduce androgen excess independent of ACTH and thus allow for lower glucocorticoid dosing in CAH. 17-hydroxyprogesterone (17-OHP) and androstenedione are CAH biomarkers used to monitor androgen excess.

Androgen excess and diagnostic steroid biomarkers for nonclassic 21-hydroxylase deficiency without cosyntropin stimulation.

Objectives: The clinical presentation of patients with nonclassic 21-hydroxylase deficiency (N21OHD) is similar with that for other disorders of androgen excess. The diagnosis of N21OHD typically requires cosyntropin stimulation. Additionally, the management of such patients is limited by the lack of reliable biomarkers of androgen excess.

Individualizing Management of Infertility in Classic Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors.

Testicular adrenal rest tumors (TARTs) are a common cause of male infertility in patients with classic congenital adrenal hyperplasia (CAH). These tumors are located in the rete testis and can lead to impaired blood flow and functional impairment of seminiferous tubules. We describe restoration of fertility in a man with CAH and bilateral TARTs with use of lower-dose glucocorticoid therapy than previously described.

Adrenal morphology and associated comorbidities in congenital adrenal hyperplasia.

Objective: Adrenonodular hyperplasia and tumour formation are potential long-term complications of congenital adrenal hyperplasia (CAH) with little known regarding the clinical implications. Our aim was to describe volumetric adrenal morphology and determine the association between radiological findings and comorbidities in adults with classic CAH.

Design: This was a cross-sectional study of 88 patients (mean age 29.

Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia.

Context: Patients with congenital adrenal hyperplasia (CAH) are at risk for life-threatening adrenal crises. Management of illness episodes aims to prevent adrenal crises.

Objective: We evaluated rates of illnesses and associated factors in patients with CAH followed prospectively and receiving repeated glucocorticoid stress dosing education.

Congenital adrenal hyperplasia.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that require hormone replacement therapy. Presentations vary from neonatal salt wasting and atypical genitalia, to adult presentation of hirsutism and irregular menses.

Octreotide Is Ineffective in Treating Tumor-Induced Osteomalacia: Results of a Short-Term Therapy.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome in which unregulated hypersecretion of fibroblast growth factor 23 (FGF23) by phosphaturic mesenchymal tumors (PMT) causes renal phosphate wasting, hypophosphatemia, and osteomalacia. The resulting mineral homeostasis abnormalities and skeletal manifestations can be reversed with surgical resection of the tumor. Unfortunately, PMTs are often difficult to locate, and medical treatment with oral phosphate and vitamin D analogues is either insufficient to manage the disease or not tolerated.

A patient with MEN1 typical features and MEN2-like features.

Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves.

Accelerated atherosclerosis and elevated lipoprotein (a) after liver transplantation.

Cumulative evidence suggests that lipoprotein(a) [Lp(a)] exerts an independent effect on the initiation and progression of atherosclerotic cardiovascular disease. The genetically mediated expression of apolipoprotein(a), which is the key structural and functional component of Lp(a), occurs in hepatocytes with subsequent extracellular Lp(a) assembly at the hepatic cell surface. Here, we describe a case of elevated Lp(a) concentrations identified after (and likely acquired by) orthotopic liver transplantation that contributed to accelerated atherosclerotic cardiovascular disease despite intensive therapeutic interventions.

Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Background: Prior studies reveal that bone mineral density (BMD) in congenital adrenal hyperplasia (CAH) is mostly in the osteopaenic range and is associated with lifetime glucocorticoid dose. The forearm, a measure of cortical bone density, has not been evaluated.

Objective: We aimed to evaluate BMD at various sites, including the forearm, and the factors associated with low BMD in CAH patients.

Takotsubo cardiomyopathy associated with thyrotoxicosis: a case report and review of the literature.

Background: Takotsubo or stress-induced cardiomyopathy is a form of reversible cardiomyopathy commonly associated with emotional or physical stress. Thyrotoxicosis has been identified as a rare cause of Takotsubo cardiomyopathy, with only 12 cases reported in the literature. Here, we report a case of thyroid storm presenting with Takotsubo cardiomyopathy in the setting of Graves' disease.

Vitamin D deficiency and its relation to bone mineral density and liver fibrosis in HIV-HCV coinfection.

Background: Fractures and cirrhosis are major causes of morbidity and mortality among HIV-HCV-coinfected individuals. It is not known whether vitamin D deficiency is associated with these outcomes.

Methods: Between 2005 and 2007, 116 HIV-HCV-coinfected individuals underwent dual-energy X-ray absorptiometry within 1 year of a liver biopsy.

Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B.

Context: Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop hypocalcemia and secondary hyperparathyroidism. Hyperparathyroid bone disease also develops in some patients. PHP1B patients are at theoretical risk of developing tertiary hyperparathyroidism.

Controlled HIV viral replication, not liver disease severity associated with low bone mineral density in HIV/HCV co-infection.

Background & Aims: To evaluate the prevalence and risk factors for low bone mineral density (BMD) in persons co-infected with HIV and Hepatitis C.

Methods: HIV/HCV co-infected study participants (n=179) were recruited into a prospective cohort and underwent dual-energy X-ray absorptiometry (DXA) within 1 year of a liver biopsy. Fibrosis staging was evaluated according to the METAVIR system.

Prevalence of low bone mineral density in a low-income inner-city population.

Bone mineral density (BMD) is an important factor linked to bone health. Little is known of the prevalence of low BMD and its associated risk factors in an urban underserved population. Between 2001 and 2004, we recruited 338 subjects who completed drug use and medical history questionnaires, underwent hormonal measurements, and underwent whole-body dual-energy X-ray absorptiometry (DXA) for evaluation of BMD and body composition.

Decreased persistence to cholinesterase inhibitor therapy with concomitant use of drugs that can impair cognition.

Study Objectives: To assess persistence with cholinesterase inhibitor therapy 6 months after the start of treatment, and to determine whether the likelihood of persistence is associated with the coprescription of drugs that can impair cognition.

Design: Retrospective cohort study.

Setting: Community (home residence) or long-term care facility.