hypogonadism/vėmimas

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Straipsniai Klinikiniai tyrimaiPatentai

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[A 51-year-old woman with hypothyroidism, hypogonadism and an acute picture of abdominal pain, diarrhea, vomiting, fever and hypotension].

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Congenital adrenal hypoplasia in a male with gonadotropin deficiency.

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We report the case of a boy with adrenal insufficiency diagnosed at the age of 2.5 months. He required immediate therapy with corticosteroids. His two brothers and a cousin died in infancy with vomiting and dehydration. Aged 17.5 years (bone age 13 years), he showed no signs of puberty, a testicular

A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism.

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We report on a DAX1 gene investigation in a patient with X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in order to identify mutations causing this disorder and to confirm the clinical diagnosis. The description of the clinical course of the condition with a

Primary Empty Sella Syndrome Presenting With Severe Hyponatremia And Minimal Salt Wasting.

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A 41 year old Jordanian gentleman known case of osteogenesis imperfecta presented with vomiting, decreased oral intake followed by confusion. At presentation he was found to have signs of hypogonadism with severe hyponatremia. The hyponatremia responded to intravenous steroid replacement .This

Schmidt’s syndrome: a difficult diagnosis in the Latin American context

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Schmidt’s syndrome, also known as poliglandular autoimmune syndrome type 2, is a rare disease that has a prevalence between 1.5-4.5 cases per 100 000 inhabitants. The diagnosis consists in the concomitant presentation of Addison disease, autoimmune thyroid disease and other autoimmune

Severe hypoglycemia and hyponatremia caused by hypopituitarism in a female patient with type 1 diabetes: A case report.

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The misdiagnosis of hypopituitarism is common due to its rarity and its nonspecific clinical manifestations. Our case report highlights the importance of critical evaluation regarding hypopituitarism as a cause of recurrent hypoglycemia, hyponatremia, and gastrointestinal symptoms in

Spontaneous remission of acromegaly or gigantism due to subclinical apoplexy of pituitary growth hormone adenoma.

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BACKGROUND Subclinical apoplexy of pituitary functional adenoma can cause spontaneous remission of hormone hypersecretion. The typical presence of pituitary growth hormone (GH) adenoma is gigantism and/or acromegaly. We investigated the clinical characteristics of patients with spontaneous partial

Osmotic demyelination syndrome in a patient with Noonan syndrome and anterior hypopituitarism

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Summary: Severe hyponatremia and osmotic demyelination syndrome (ODS) are opposite ends of a spectrum of emergency disorders related to sodium concentrations. Management of severe hyponatremia is challenging because of the difficulty in

[Clinical features of 9 patients with X-linked adrenal hypoplasia congenita caused by DAX1/NR0B1 gene mutations].

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OBJECTIVE To study the clinical features of 9 patients with X-linked adrenal hypoplasia congenita (AHC) by gene sequencing so as to provide diagnostic rationales. METHODS The patients were 9 cases of X-linked AHC treated at our hospital from July 2007 to June 2009. The clinical manifestations were

Galactosemia and amenorrhea in the adolescent.

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Hereditary galactosemia is a biochemical genetic disease due to a deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity (OMIM 606999). Acute manifestations occur in the neonatal period and are, with rare exceptions, related to lactose ingestion. They include poor feeding and

Metastatic MEN1 Syndrome Treated with Lutetium-177 - A Case Report.

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumour syndrome characterised by three main manifestations: primary hyperparathyroidism (78-94%), gastroenteropancreatic neuroendocrine tumours (GEP-NETs) (35-78%) and pituitary adenomas (20-65%). For metastatic and

Pituitary apoplexy in an adolescent with prolactin-secreting adenoma.

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A 14.8-year-old girl was treated with bromocriptine for a prolactin-secreting adenoma. She suddenly developed headaches, vomiting, fever and meningeal syndrome. This was associated with corticotropin, thyrotropin and gonadotropin deficiencies. Magnetic resonance imaging showed peripheral enhancement

Spontaneous cerebrospinal fluid rhinorrhea as the initial presentation of growth hormone-secreting pituitary adenoma.

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Patients with acromegaly usually present with characteristic clinical features or comorbidities associated with excess insulinlike growth factor 1 (IGF-1)/growth hormone (GH) or may come to medical attention secondary to mass effects causing visual field distortions. Herein, we report a case of

A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.

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OBJECTIVE Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in

Symptomatic Pituitary Metastasis as Initial Manifestation of Renal Cell Carcinoma: Case Report and Review of Literature

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Metastasis to the pituitary gland is extremely rare (∼2% of sellar masses). Clinical, biochemical, and radiologic characteristics of pituitary metastasis are poorly defined and can be difficult to diagnose before surgery. We present an unusual case with pituitary metastasis as the first

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