Endocrine Abstracts

Introduction: Diabetic neuropathy is often a late manifestation of diabetes. Moreover its incidence in the paediatric age group is very rare. We present here a case of motor neuropathy as a first presenting feature of Type 1 diabetes mellitus.Case Report: A fourteen-year-old girl presented with right foot drop, which had progressively worsened over the last ten days. There was no other CNS or systemic involvement. Parents denied any history of pain, para...

Introduction: Pituitary adenomas account for 10% of intracranial tumours and are almost always benign. In some individuals, who may have a pre-existing adenoma, the pituitary gland undergoes remarkable hyperplasia especially during pregnancy, due to increase in oestrogen levels leading to increase in the tumour volume causing mass effects. This case report reviews a pregnancy with incidental finding of pituitary macro adenoma causing visual field defect, its management and fur...

Background: FSH (Follicular stimulating hormone) secreting pituitary adenoma rare entity among functional pituitary tumors, with a few reported cases, almost certainly missed because of the lack of clinical examination skills. Approximately, 40-50% represent gonadotroph adenoma of all pituitary tumors. Only small percentage of these tumors secrete biologically active gonadotropins leading to gonadal stimulation.Case presentation: Here, we report a unique...

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...

Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic...

Introduction: Diabetes Mellitus appears to be globally pandemic and is drawing attention as a major public health concern. Chronic complications of this disease can lead to poor quality of life with significant financial burden to family and country as well. The current study aims to assess prevalence of such complications and its awareness in type 2 diabetes population.Methods: This descriptive cross-sectional study was conducted during one year period ...

Background and aims: Non-prescribed use of anabolic-androgenic steroids (AAS) is associated with a wide range of health risks including AAS-induced hypogonadism (ASIH) caused by negative feedback suppression on the hypothalamic-pituitary-gonadal (HPG) axis. Testicular function might be reduced for months up to years after AAS-cessation, increasing the risk of developing fatigue, decreased libido, erectile dysfunction, infertility, sleep disorder, depression and anxiety. There ...

Hypogonadotropic hypogonadism (HH) is a rare reproductive disorder that results in a lack of normal pubertal development and reduced potential for fertility in adult life. The condition is characterised by low circulating sex steroid concentrations resulting from a deficiency of pituitary gonadotropin production. HH may be congenital or acquired, most commonly due to tumour or treatment for malignant disease. When associated with anosmia it is termed Kallmann syndrome. HH is a...

Sphingosine-1-phosphate lyase 1 insufficiency syndrome (SPLIS) is a multisystemic syndrome in which primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome predominate, secondary to loss-of-function mutations in SGPL1 (sphingosine-1-phosphate lyase). SGPL1 carries out the irreversible breakdown of sphingosine-1-phosphate, a bioactive sphingolipid intermediate, with implicated roles in various cellular processes. Wider endocrinopathy including gonadal insuf...

Within the last 25 years more than 400 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. In 1993 the first gene defect, in MC2R, was discovered by candidate gene sequencing. Subsequent...