Endocrine Abstracts

Acromegaly is a rare clinical disorder characterized by progressive somatic disfigurement and a wide range of systemic complications which include gonadotrophic dysfunction, menstrual abnormalities and infertility. Thus, pregnancy in patients with acromegaly is a rare and challenging medical situation. Furthermore, the evidence about the use of somatostatin analogs (SSAs) during pregnancy in patients with acromegaly and its outcomes is still limited. Here we describe the clini...

ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing’s syndrome. Both Phosphodiesterase 11A4 (PDE11A4) mutations and inactivating mutations of armadillo repeat containing 5(ARMC5) have been associated with familial AIMAH. A family with autosomal dominant AIMAH was studied trying to elucidate the involved genetic basis.Methods and results: Adrenal hypercortisolism with giant bilateral AH was diagnosed in three adult me...

Introduction: Adrenal Cushing’s syndrome during pregnancy is rare, and few cases have been reported. It is infrequent to identify pregnant women with adenomas that have cortisol and androgen co-secretion. The diagnosis and treatment of excess cortisol during pregnancy is challenging when the patient does not want a pregnancy interruption.Case Report: 38-year-old woman with arterial hypertension for four years. During her working days, she remained u...

Aim: To study the prevalence of metabolic syndrome (MS) and its relation with ghrelin in old men.Material and methods: Prospective-population based study (2002–2005) in which 153 independently living men older than 70 y were included. Comorbidities, physical exam, BMI, blood pressure were recorded and blood sample taken for biochemical and hormonal determinations. Metabolic syndrome was defined using IDF criteria.Results: MS w...

Toxic adenomas (TA) and toxic multinodular goiters (TMNG) are frequent causes of hyperthyroidism in Galicia, an endemic goiter area. In some European countries, 40–80% of toxic goiters are caused by TSH receptor (TSHr) and Gs alfa-subunit (Gsa) mutations that activate cAMP pathway.Aims: To study 1) the prevalence of TSHr and Gsa mutations in TMNG and TA from Galicia, 2) the clonality of sequenced samples, 3) the constitutive activity of the identifi...

We have recently reported that somatic mutations in the ubiquitin-specific protease 8 (USP8) are present in corticotropinomas of patients with Cushing’s disease and that these mutations reduced the interaction with 14-3-3. Mutant USP8 exhibited higher deubiquitination activity and potentiated EGFR-induced POMC expression (Reincke et al., Nat Genet 2014). To further study the prevalence of these mutations, we have analyzed 134 ACTH-producing corticotropin...