hypertrichosis/obezitate

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Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.

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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,

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

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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

Obesity, Hypertrichosis and Sex Steroids: Are these Factors Related to the Pilonidal Sinus Disease?

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Pilonidal sinus disease causes chronic inflammation of the skin and subcutaneous fatty tissue, and it commonly localises in the sacrococcygeal region. This study evaluated the effects of hypertrichosis, family history, obesity and sex steroids in 298 patients with pilonidal sinus

[Obesity and hypertrichosis].

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Anterior cervical hypertrichosis and mental retardation.

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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 with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.

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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

[Nutrition of horses with equine pituitary pars intermedia dysfunction ("Cushing's syndrome") treated with pergolid - A field study].

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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

Cushing's case XLV: Minnie G.

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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

Linear growth arrest without weight gain due to overuse of topical clobetasol.

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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

Male Equivalent Polycystic Ovarian Syndrome: Hormonal, Metabolic, and Clinical Aspects

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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

Cushing's syndrome due to ectopic production of corticotropin-releasing hormone in an infant with ganglioneuroblastoma.

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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

[Sandimmun-Neoral--a new quality of life for patients with severe systemic juvenile rheumatoid arthritis].

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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

Steroidal and non-steroidal factors in plasma sex hormone binding globulin regulation.

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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

Evaluation of the efficacy and toxicity of the cyclosporine A-flucortolone-methotrexate combination in the treatment of sarcoidosis.

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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.

Long-term lanreotide treatment in six patients with congenital hyperinsulinism.

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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

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