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Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
BACKGROUND Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood. METHODS We performedExpand
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TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
CONTEXT Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding neurokinin B and its receptor NK3R, respectively, were recently discovered in kindreds with nonsyndromic normosmicExpand
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Therapeutic management of hypophosphatemic rickets from infancy to adulthood
In children, hypophosphatemic rickets (HR) is revealed by delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis, spontaneous dental abscesses, and growth failure.Expand
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Mitotane, metyrapone, and ketoconazole combination therapy as an alternative to rescue adrenalectomy for severe ACTH-dependent Cushing's syndrome.
CONTEXT Mitotane is highly effective in the long-term management of Cushing's syndrome but has a slow onset of action. Mitotane combined with fast-acting steroidogenesis inhibitors might avoid theExpand
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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disordersExpand
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Ketoconazole in Cushing's disease: is it worth a try?
BACKGROUND The use of ketoconazole has been recently questioned after warnings from the European Medicine Agencies and the Food and Drug Administration due to potential hepatotoxicity. However,Expand
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Pituitary tumours: acromegaly.
Excessive production of the growth hormone (GH) is responsible for acromegaly. It is related to a pituitary GH-secreting adenoma in most cases. Prevalence is estimated 40-130 per million inhabitants.Expand
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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralizationExpand
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Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Congenital hypogonadotropic hypogonadism (CHH) results from abnormal gonadotropin secretion, and it is characterized by impaired pubertal development. CHH is caused by defective GNRH release, or by aExpand
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Growth hormone, insulin-like growth factor-1, and the kidney: pathophysiological and clinical implications.
Besides their growth-promoting properties, GH and IGF-1 regulate a broad spectrum of biological functions in several organs, including the kidney. This review focuses on the renal actions of GH andExpand
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