Endocrine Abstracts

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease due in ∼25% of cases to defects in the ACTH receptor (melcanocortin 2 receptor -MC2R). Slow progress in characterization of these mutations has been made in view of the difficulty in establishing a functional heterologous cell transfection system for the MC2R, and the best available models relate to the mouse Y6/OS3 cell lines. However we have shown previously that the melanocortin 2 receptor ...

Background: The majority of patients with GH insensitivity have defects in the extracellular domain of the GHR. We have identified a 47yr old woman homozygous for a 22bp deletion in the cytoplasmic domain of the GHR. The patient had high GH levels, and low IGF-1 of 8 ug/L (normal 54-389 ug/L), IGFBP-3 16nmol/L (normal 61-254 nmol/L) and GHBP 6.8 percent (normal greater than 10 percent) levels. We report functional studies for this mutation (GHR1-449) which results in premature...

Background: Mutations in the GHR result in extreme short stature (Laron's syndrome). We have studied mutations from two patients with Laron's syndrome. Patient 1 (GHRextra) has a mutation in the GHR extracellullar domain due to a 108bp inframe pseudoexon between exons 6 and 7. Patient 2 (GHRintra) has a 22bp deletion in exon 10 of the GHR leading to premature termination of the GHR upstream of the intracellular STAT5 binding site.Aim: To compare GHR str...

Introduction: Silent corticotroph tumours (SCT) are a pituitary tumours (PT) subtype of corticotroph lineage that do not clinically express Cushing disease. Inmunohistochemical (IHC) studies reveal no differences between SCT and functioning corticotroph tumours with Cushing Syndrome (FCT). However, the silencing mechanisms of this type of tumours are not fully understood.Aim: In an important series of SCT, to sequence the POMC gene and quantify ...

Introduction: Pregnancy in hypopituitary women is a rare and poorly studied clinical condition. Management difficulties and obstetrical complications have been associated with this condition.Objectives: To define the characteristics, follow-up and perinatal outcomes in hypopituitary pregnant women attended at our centre.Methods: The clinical data of the hypopituitary pregnant women (deficiency of two or more pituitary hormones), an...

11-deoxycorticosterone (DOC) is an aldosterone precursor synthesized from progesterone and converted to corticosterone in the adrenal cortex. DOC overproduction due to an adrenal lesion is a very rare cause of mineralocorticoid-induced hypertension. The objective of this study is to provide the most relevant clinical features that clinicians dealing with patients presenting with the hallmarks of hypertension due to DOC-producing adrenal lesions should be aware of. We report a ...

Background: Muscle weakness may persist in patients with Cushing’s syndrome (CS) long-term after resolution of hypercortisolism, but mechanisms determining this sustained impairment are not known. We hypothesized that alteration of muscle structure, due to fatty infiltration, is associated with muscle dysfunctions in these patients.Patients & methods: Twenty-six CS women [mean(±S.D.) age 49±12 years; mean(±S....

Introduction: Pegvisomant (PEGV) is approved for the treatment of acromegaly since 2003. This is the second interim analysis of data from ACROSTUDY, with the majority of patients treated for at least five years (yrs).Methods/design: ACROSTUDY is an international, open-label, prospective, non-interventional, post-marketing surveillance study monitoring the long-term safety and efficacy of PEGV. Patients were enrolled in the study on an ongoing basis.<...

Background: Accurate genetic diagnosis is essential in disorders of sex development (DSD), guiding medical management and enabling optimal personalized care delivery.Case presentation: Two siblings (I and II) with a family history of 17β-hydroxysteroid dehydroxygenase (17β-HSD3) deficiency presented postnatally with isolated labial swelling. Karyotype was 46,XY and urinary steroid profile (USP) normal. HCG-stimulated testosterone/androstenedion...

Context: Cushing’s syndrome (CS) is a rare endocrine disease, due to cortisol hypersecretion. CS patients have several comorbidities, often still present after biochemical cure. There are no specific nursing healthcare programs to address this disease and achieve improved health related quality of life (HRQoL). Thus, an educational nursing intervention in these patients, through the development and promotion of specific educational tools, appears to be justified.<p cl...