Hypergonadotropic hypogonadism and renal failure due to WT1 mutation

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Hypergonadotropic hypogonadism and renal failure due to WT1 mutation.

Puberty is frequently delayed in adolescent patients with chronic renal failure, due to temporarily insufficient hypothalamo-pituitary stimulation of the gonads. In these patients, basal levels of gonadotropins are normal or slightly elevated due to increased plasma half-life of luteinizing hormone (LH) and follicle stimulating hormone (FSH) [1]. However, the response to gonadotropin releasing ...

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  A male patient with acute renal failure (ARF) due to large B-cell non-Hodgkin lymphoma infiltration of kidney is presented. The diagnosis was suspected because of coincidence of ARF and tumor lysis syndrome non-responsive to conservative renal therapies. A renal biopsy confirmed diagnosis and appropriate chemotherapy led to complete improvement of renal function.  

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Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia.

INTRODUCTION Abetalipoproteinemia is a rare inherited disorder characterized by very low plasma levels of cholesterol and triglycerides, secondary to a dramatic decrease in apolipoprotein B-containing lipoproteins, which is induced by a mutation in the microsomal triglyceride transfer protein gene. CASE In our paper, we describe an atypical clinical manifestation of this condition in a young ...

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CASE REPORT 46,XY Hypergonadotropic hypogonadism and myasthenia gravis

Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ...

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Hypogonadotropic hypogonadism due to GnRH receptor mutation in a sibling.

Hypogonadotropic hypogonadism (HH) is characterised by delayed puberty and infertility. Congenital HH comprises Kallmann syndrome with hypo-/anosmia and idiopathic HH (IHH). The genetic origin remains unknown in most cases, but the defective GnRH receptor gene (GNRHR) accounts for a considerable proportion of IHH. Here we describe a pair of siblings diagnosed with IHH. Aged 17 years, the boy wa...

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ژورنال

عنوان ژورنال: Nephrology Dialysis Transplantation

سال: 2006

ISSN: 1460-2385,0931-0509

DOI: 10.1093/ndt/gfl023