hypertrichosis/obesity

A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies,

We present a moderately mentally retarded boy with obesity, short stature, hypertrichosis and facial dysmorphism due to a deletion of 1.2 Mb on chromosome 19p13.2. The deletion was de novo and familial history was negative for the disorder. Genes in the deleted region possibly related to the

Anterior cervical hypertrichosis or hairy throat is a rare dysmorphic sign described in a total of 19 patients so far. The association with a number of additional features has been reported, including mental retardation. We report on another patient with this condition who also had moderate mental

Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations

UNASSIGNED The nutritional status of 36 patients with equine pituitary pars intermedia dysfunction (PPID) under pergolide treatment was investigated. METHODS The body condi tion score (BCS) and feeding were determined at the beginning of the study and after 60 and 120 days. Sampled blood for control

A 23-year-old patient who was examined in 1910 by Harvey Cushing triggered his lifelong interest in the syndrome that bears his name. "Minnie G.," as she became historically known, presented with a "...syndrome of painful obesity, hypertrichosis, and amenorrhea with overdevelopment of secondary

Prolonged potent topical glucocorticoid therapy in infants can cause iatrogenic Cushing's syndrome. This case highlights the rarity of poor weight gain in iatrogenic Cushing's syndrome. A 17-month-old boy was referred to outpatients pediatric endocrine clinic for evaluation of growth failure. On

Recent studies identified the presence of a male polycystic ovarian syndrome (PCOS), which mainly affects men whose female relatives are afflicted with PCOS, caused by genes responsible for the susceptibility of this syndrome in women. Similar hormonal, metabolic, and clinical alterations occurring

OBJECTIVE To report the first recognized case of Cushing's syndrome due to a corticotropin-releasing hormone (CRH)-secreting ganglioneuroblastoma, which was found in an 18-month-old boy with hypertensive encephalopathy. METHODS The clinical, biochemical, and immunohistochemical characteristics of

OBJECTIVE To develop an effective and safe therapeutic policy for Sandimmun-Neoral in order to prevent joint destruction, invalidation, achieve higher life quality in patients with systemic juvenile rheumatoid arthritis (SJRA). METHODS The trial included 26 patients with SJRA aged 4-15 years. 12 of

Sex hormone binding globulin (SHBG) is a specific steroid-binding plasma glycoprotein regulated by several factors. Sex steroids are currently considered to be the main physiological regulators of this protein. SHBG levels, in fact, increase during estrogen treatment and decrease after androgen

Eleven patients with chronic sarcoidosis resistant to high-dose corticosteroids and other immunosuppressive treatments were treated with cyclosporine A at the initial daily dose of 5 mg per kg body weight (ideal weight in the case of overweight subjects) combined with flucortolone and methotrexate.

BACKGROUND Medical treatment is a substantial therapeutic measure to achieve glycemic control and prevent hypoglycemic brain damage without surgery in patients with congenital hyperinsulinism (CHI). However, only few drugs are available and even fewer are approved as a medical therapy to maintain