Loss-of-function mutations/inactivating mutations of the human chorionic gonadotropin/luteinizing hormone receptor (hCG/LHR), a G-protein coupled receptor, lead to impaired Leydig cell differentiation. Leydig cell hypoplasia/agenesis/dysplasia (LCH) is one of the causes of male pseudohermaphroditism (MPH). We studied a 19-year-old MPH patient with female phenotype and 46,XY karyotype. Testicular histology and hormonal profile of the patient is typical of LCH. Nucleotide sequencing of exon 11 of hLHR identified a novel T1505C transversion mutation. The mutation is homozygous in the patient and is heterozygous in both parents. The single base mutation caused the substitution of a conserved leucine at 502 position to proline in transmembrane helix (TM) IV of the hLHR. This is the first LCH causing mutation identified in TM IV of the hLHR. Expression study of the mutated hLHR in human embryonic kidney (HEK)293 cells showed reduced cAMP production and ligand binding. Receptor trafficking was not affected by the mutation when the green fluorescence protein conjugated mutated receptor was expressed in HEK293 cells. The mutation caused inactivation of the hLHR and resulted in LCH in the patient.
Thyroid storm is a rare and life-threatening medical emergency. We report a young lady with Graves' disease and acute myeloid leukaemia who developed thyrotoxic crisis following an induction course of chemotherapy given for the treatment of acute leukaemia. After successful management of her leukaemia and thyroid disease, she received an autologous bone marrow transplantation.
Introduction: The triad of diabetic ketoacidosis (DKA), acute pancreatitis (AP), and hypertriglyceridaemia (HTG) has been described mainly in T1DM with few cases in T2DM. We report the first case of this triad revealing T2DM. Case report: A 30-year-old male with strong family history of T2DM presented to the emergency with severe epigastric pain radiating to the back associated with abdominal swelling, vomiting and diarrhea. He also reported history of polyuria and polydipsia with undocumented weight loss for one month prior to presentation. Clinically, he was found to have distended abdomen which was tender all over especially in the epigastrium. A urine dipstick was positive for +3 ketone and +3 glucose. The serum glucose level was 30.6 mmol/L. Blood work demonstrated high anion gap metabolic acidosis, high amylase and moderate hypertriglyceridaemia (10.67 mmol/L). A CT scan of the abdomen revealed that the pancreas was bulky with peri-pancreatic fluid collection suggestive of acute mild exudative pancreatitis. The diagnosis of DKA, AP precipitated by HTG was established. The patient was managed with intravenous fluid, potassium replacement, and insulin infusion in addition to analgesic until he improved. He was then shifted to multiple doses of insulin and started on fenofibrate 145 mg daily. The C-peptide was 538 pmol/L (366-1466). The HbA1c was 10%, and all pancreatic auto-antibodies were negative. At the follow up visit two weeks later, the patient was doing well. His home glucose monitoring showed fasting blood sugar ranging between 4.4-6.5 mmol/L and 2 hours postprandial readings between 8-10 mmol/L. The triglyceride level becomes normal (1.72 mmol/L). Conclusion: This patient is likely suffering from T2DM supported by detectable C-peptide level and negative pancreatic auto-antibodies in addition to strong family history of T2DM. Our report stresses that DKA, AP, and HTG can be a rare presentation of T2DM.
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