Endocrine Abstracts

Introduction: 46XY gonadal dysgenesis is one of the important cause of DSD with varied clinical presentation Genetic mutations like SRY, NR5A1, SOX9, DHX37 are common mutations that can cause gonadal dysgenesis. Genetic testing for reaching final diagnosis in 46 XY DSD is increasingly playing a crucial role in the management plan.Case: A 10-month-old patient presented in our DSD clinic with complaint of atypical genitali...

Background: Peptide-receptor-radionuclide-therapy (PRRT) improves progression free survival in metastatic neuroendocrine neoplasia (NEN). To be suitable for PRRT, somatostatin receptor-2 (SSTR2) must be present on tumour site as determined by positive uptake on [68Ga]Ga-DOTA-peptide-PET/CT. LANTana is an ongoing study evaluating whether treatment with the demethylating agent, ASTX727, results in re-expression of SSTR2, as determined by [68Ga]Ga-DOTA-peptide-PE...

Background: Precocious puberty is thought to occur in 1 in 5000–10 000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence. Objective: To find the frequency of precocious puberty in children and to compare the clinical and laboratory parameters of central and peripheral precocious puberty. M...

Introduction: There are multiple causes of delayed puberty including constitutional delay in growth and puberty, chronic diseases, hypothyroidism, and pituitary tumours (e.g. craniopharyngioma). Delayed puberty due to macroprolactinoma is rare.Case Presentation: A 23-year-old male was reviewed in the Endocrine clinic after presenting with headaches and generally feeling unwell. Blood test showed a high prolactin level of 84637, low FT 7.7, low testostero...

Introduction: Polycystic Ovary Syndrome (PCOS) affects 5-10% of childbearing females and, up to 20% in specific ethnic populations (i.e. South Asians and Hispanics). It is linked with a higher prevalence of obesity and metabolic dysfunction, resulting in increased risk for dyslipidaemia, impaired glucose tolerance, type 2 diabetes mellitus (T2DM) and cardiovascular diseases.Methods: This is a retrospective study of patients diagnosed with PCOS (n</em...

Background: Pituitary apoplexy is one of the rare endocrine emergencies. Most series indicate that incidence is between 2-7% based on clinical, surgical and histopathological evidence.1-3 Usually presents with severe headaches that may be associated with nausea vomiting, ocular palsies, fever, photophobia. Predisposing factors are pre-existing pituitary conditions, hypertension, major surgery, anticoagulation therapy, pregnancy, radiotherapy. Appropriate endocrine, ...

Approximately 15-20% of phaeochromocytomas and paragangliomas (PPGL) are metastatic. Metastatic spinal cord compression (MSCC) has been reported infrequently. We present three cases of MSCC secondary to metastatic PPGLs. MSCC can occur in patients with PPGLs and should be considered in patients with either spinal symptoms or spinal metastases on imaging. Our series has shown radiotherapy followed by therapeutic MIBG to be effective in treating spinal metastases. Each case shou...

23-year-old scaffolder, fit and well, presented several times to A&E with episodes of fitting which comprised of an energy surge followed by typical neuroglycopenic and autonomic signs of hypoglycaemia. He was only found to be hypoglycaemic after a severe episode where paramedics were called to his home and discovered his blood sugars to be 1.8 mmol/l with a serum insulin was measurable. His symptoms were moderately relieved by eating a combination of sugary food like hone...

Introduction: Granulomatosis with polyangiitis (GPA) is an anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitis of both small and medium-sized vessels. Pituitary involvement in GPA is uncommon and few cases have been previously reported. Isolated pituitary involvement in GPA is rare and 96% of cases are associated with other organ involvement. GPA commonly affects the upper respiratory tract (93%), lungs (73%) and kidneys (67%).Case...

A 50-year-old lady presented with fatigue, tiredness and constipation, has more than twenty years history of hypercalcemia. She was clinically and biochemically diagnosed as familial hypocalciuric hypercalcemia with high calcium, normal parathormone, low urinary calcium, low fractional excretion of calcium, positive family history. Genetic confirmation was done by positive molecular genetic analysis of CASR gene. She has persistent high calcium level ranging between 2.8 and 3....