hypogonadism/diarrhea

Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short

BACKGROUND Whipple's disease, like other malabsorption syndromes, ought to predispose to osteopenia. We therefore evaluated bone mass and mineral metabolism in a cohort of patients with this condition. METHODS Twelve male patients with Whipple's disease and 36 male age-matched healthy subjects took

We report an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of

The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflammation of the bowel, severe abdominal pain and chronic diarrhea. Its etiology is not known at present. A recessive gene with incomplete penetrance is thought to

OBJECTIVE Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with obesity, severe malabsorptive diarrhea, and certain endocrine abnormalities. Common variants in

Zinc is an essential trace element of all highly proliferating cells in the human body. It is essential to the development and growth of all organisms. Zinc plays a critical role in modulating resistance to infectious agents and reduces the duration, severity, and risk of diarrheal disease via

Growth retardation is seen in experimental animals as a result of severe dietary restriction of several essential trace elements. However, in humans, the effect of zinc deficiency is most pronounced. Growth failure and hypogonadism in males, related to a deficiency of zinc, have been recognized in

Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age.

Alterations in zinc metabolism or zinc deficiency frequently occur in patients with alcoholic liver disease. Potential manifestations of zinc deficiency include skin lesions, hypogonadism, impaired night vision, impaired immune function, anorexia, altered protein metabolism, diarrhea, and depressed

BACKGROUND Gynecomastia is treated when it is painful, there are psychosocial repercussions or it does not revert in less than two years. It is treated with the antiestrogenic drug tamoxifen, but there are doubts about its effectiveness in high volume gynecomastias or in those lasting more than two

Zinc is an essential trace element integrally involved in a wide range of metabolic processes required for tissue growth and repair as well as being necessary for maintaining host defences. Zinc deficiency can occur from lack of adequate dietary intake, decreased intestinal absorption, and increased

An 18-year-old male presented to the ophthalmology department with bilateral total subluxated cataract. On systemic examination, he was found to have grossly short stature, multiple severe bony deformities, hypogonadism and partial adontia. Detailed work-up revealed a biochemical and radiologic

The requirement of zinc for humans was recognized in the early 1960s. The causes of zinc deficiency include malnutrition, alcoholism, malabsorption, extensive burns, chronic debilitating disorders, and chronic renal diseases; use of certain drugs such as penicillamine and, in some cases, diuretics;

POEMS syndrome is characterized by Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes. We report a woman with the syndrome, who had peripheral polyneuropathy, osteosclerotic myeloma, monoclonal IgA elevation, hypothyroidism, hypogonadotrophic hypogonadism,