The presence of cortisol - secret ing adenoma concomitantly with rheumatic heart disease, schizophrenia and myoma uteri is rare. This is a case of a 40 year old female with Schizophrenia who gradually developed Cushing's syndrome from an adrenal adenoma. She suffered a cardio-embolic stroke from Rheumatic heart disease which delayed hysterectomy for a bleeding intrauterine myoma. As ide f rom the phys ical f indings of Cushing's syndrome laboratory work up revealed an elevated 24 hour urine free cortisol with loss of normal diurnal cortisol secretion, suppressed 8AM ACTH level and negative suppression after a high dose dexamethasone. The patient underwent laparoscopic adrenalectomy for a 3.8 x 2.4 x 3 cm left adrenocortical adenoma. She required steroid supplementation. Menstrual flow immediately normalized, functional capacity improved and metabolic parameters such as weight, blood pressure and blood sugar were controlled six months after the surgery. Relapse of psychotic symptoms occurred eight months postoperatively because of non-compliance to antipsychotic medications. Cushing's syndrome if untreated can cause significant morbidities such as metabolic, hemodynamic, cardiovascular, bleeding disorder and psychiatric illness. These complications however can also be caused by primary medical illnesses like schizophrenia, rheumatic heart disease and myoma uteri. Treatment of the Cushing's syndrome may resolve some but not all the metabolic and hemodynamic problems and theoretically should also decrease the risk of complications of other primary illnesses concomitantly present. The presence of concomitant primary disease that can cause psychosis, cerebrovascular disease and metrorrhagia should also be investigated in a patient who has Cushing's syndrome. Prompt management of Cushing's syndrome would lessen the risk of complication attributed to schizophrenia, rheumatic heart disease and myoma uteri.

Human ; Female ; Adult ; Adrenocortical Adenoma ; Cerebrovascular Disorders ; Cushing Syndrome ; Dexamethasone ; Psychotic Disorders ; Rheumatic Heart Disease ; Schizophrenia ; Stroke ; Myoma

Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of MODY-2 identified during the investigation of asymptomatic hyperglycemia. A 12-year-old girl with a familiar history of diabetes (mother, maternal aunt, and maternal grandfather) was referred due to hypercholesterolemia, abnormal fasting glucose (114 mg/dL), and increased levels of glycated haemoglobin (HbA(1c)) (6%) presenting with negative β-cell antibodies. A glucokinase (GCK) heterozygous missense mutation c.364C>T (p.Leu122Phe) in exon 4 was identified in the index patient and in the 3 family members. An obese 9-year-old boy was investigated for elevated fasting glycemic levels (99–126 mg/dL), HbA(1c) rise (6.6%–7.6%), and negative β-cell antibodies. The patient's father, paternal aunt, and paternal grandfather had a history of diabetes during their childhood. A GCK heterozygous missense mutation c.698G>A (p.Cys233Tyr) in exon 7 was identified in the index patient. This variant was only described in another family strongly affected by both MODY and classic autoimmune mediated diabetes, contrary to our case. MODY-2 should be suspected in the presence of early onset of persistent mild fasting hyperglycemia and negative β-cell antibodies associated with a positive family history of diabetes. These cases illustrate the challenging aspects of MODY diagnosis due to possible phenotypic overlap with other types of diabetes. The diagnosis requires a high level of suspicion and GCK genetic screening should be performed in the presence of compatible features. An early diagnosis allows for appropriate management, genetic counselling, and the identification of affected family members.
Antibodies ; Child ; Diabetes Mellitus, Type 2 ; Diagnosis ; Early Diagnosis ; Exons ; Fasting ; Fathers ; Female ; Genetic Testing ; Glucokinase ; Glucose ; Grandparents ; Humans ; Hypercholesterolemia ; Hyperglycemia ; Male ; Mutation, Missense