Endocrine Abstracts

Craniopharyngiomas are embryogenic tumorous malformations of the sellar region, presumably derived from Rathke cleft epithelium. With an overall incidence of 0.5–2 new cases per million population per year, approximately 30–50% of all cases represent childhood craniopharyngioma. Typical manifestations at primary diagnosis are headache, visual impairment, polyuria/polydypsia, growth retardation, and weight gain.Therapy of choice in patients with...

Childhood-onset craniopharyngiomas are rare intracranial embryonal malformations of the sellar region arising from remnants of Rathke’s pouch that require life-long control and management of the endocrine, ophthalmological and neuropsychological deficits caused by the tumors and their treatment. Craniopharyngiomas show low-grade histological malignancy and frequently affect hypothalamic/pituitary regions and the optic chiasm due to their location. Hypothalamic involvement...

Craniopharyngiomas are partly cystic embryogenic malformations of the sellar and parasellar region. With an overall incidence of 0.5–2.0 new cases/million population per year, ~30–50% of all cases represent childhood craniopharyngioma. Typical manifestations at diagnosis are some combination of headache, visual impairment, polyuria/polydypsia, growth retardation, and significant weight gain. Therapy of choice in patients with favorable tumor localization is complete ...

Genetic association studies have been very successful and very reliable in many fields of medicine. Cross replication between studies now is the rule rather than the exception, which is very different from the situation a few years ago.Nonetheless, there are still possible problems with association studies which need close attention. These problems include population stratification even in the days of whole genome data sets, inappropriate methods of anal...

The 5′ UTR of the glucocorticoid receptor plays a key role in determining tissue specific expression, and protein isoforms. Analysis of the 5′ UTR of the hGR has revealed 11 splice variants of the hGR exon 1, based on 7 exon 1 s, 4 of which (1-D to 1-F and 1-H) were previously unknown. All of the exon 1 variants have unique splice donor sites and share a common exon 2 splice acceptor site. Due to an upstream in-frame TGA stop codon the predicted translation from al...

Objective: The impaired awareness of hypoglycemia (IAH) affects people with type 1 diabetes and is a risk factor for severe hypoglycemia. This study aims to evaluate the association between the impaired awareness of Hypoglycemia by diabetes type 1 and the peripheral neuropathy (PNP).Methods: 276 adults with type 1 diabetes, 135 men and 141 women, were studied from Mai 2015 to January 2016 to the outpatient department of University hospital of Jena. A cro...

Objective: The impaired awareness of hypoglycemia (IAH) affects people with type 1 diabetes and is a risk factor for severe hypoglycemia. This study aims to evaluate the association between the impaired awareness of Hypoglycemia by diabetes type 1 and the peripheral neuropathy (PNP).Methods: 276 adults with type 1 diabetes, 135 men and 141 women, were studied from Mai 2015 to January 2016 to the outpatient department of University hospital of Jena. A cro...

Background: Innate, isolated hypogonadotropic hypogonadism is a rare disease and results in men in cryptorchidism and failed puberty. Migration leads to diagnosis of the disease also in developed countries only in adults.Case: A 28-year-old man was sent for endocrine workup because of failed development of primary sexual characteristics and missing secondary sex characteristics. He grew up in a rural place in Sri Lanka, his brothers and sisters developed...

Background: Primary adrenal lymphoma (PAL) is a rare cause of primary adrenal insufficiency (PAI). Most often patients present with unspecific symptoms. Bilateral adrenal enlargement with signs and symptoms of PAI are clues, percutaneous biopsy after having excluded pheochromocytoma in a situation of high suspicion is diagnostic. Most of PAL are highly malignant B-cell lymphomas with a bad prognosis.Case: A 71-year-old patient was sent for endocrine work...

Tissue and cell type specific control of glucocorticoid receptor (GR) levels is thought to occur through the usage of alternate promoters, and associated non-coding alternate first exons. The vast majority of the known alternative first exons are located within a 3.2 kbp CpG island. Methylation of certain CpG dinucleotides within the rat Gr promoter has been implicated in changes in hippocampal GR expression levels and the resultant disturbances in the HPA axis.<...