Multigenerational inheritance and clinical characteristics of three large pedigrees with early-onset type 2 diabetes in Jamaica / Herencia multigeneracional y características clínicas de la diabetes tipo 2 de inicio temprano en tres árboles genealógicos grandes de Jamaica

OBJECTIVE: To document the existence and clinical characteristics of three large families with multigenerational inheritance of early-onset type 2 diabetes in Jamaica. METHODS: Three probands from large families with multigenerational inheritance of early-onset type 2 diabetes in at least three generations were detected at the University Hospital of the West Indies in Jamaica. Each proband at the time of diagnosis was < 25 years of age, was lean, and did not require insulin therapy. Clinical, metabolic, and genetic assessments were undertaken to profile the diabetes in the three families. RESULTS: Three pedigrees-BK, SU, and CA-consisting of 38, 48, and 113 members, respectively, with multigenerational inheritance of early-onset type 2 diabetes in at least three generations, were investigated. The mean age at diagnosis of the three pedigrees was 31.5 ± 2.9 years, with 10 persons detected below 25 years of age. Findings suggestive of overweight, insulin resistance, low insulin secretion, dyslipidemia, and mild intra-abdominal obesity were present. Islet cell antibodies and sequence variants in MODY1 to -6 genes were absent. CONCLUSIONS: Large families demonstrating multigenerational inheritance of diabetes and other characteristics consistent with early-onset type 2 diabetes are present in the Jamaican population.

OBJETIVO: Documentar la presencia de herencia multigeneracional de la diabetes de tipo II de inicio temprano en tres familias jamaiquinas grandes y describir sus características clínicas. MÉTODOS: En el Hospital Universitario de West Indies en Jamaica, se detectaron tres probandos de familias grandes en las que se observó herencia multigeneracional de la diabetes tipo 2 de inicio temprano en al menos tres generaciones. Al momento del diagnóstico, cada probando tenía # 25 años de edad, era delgado y no necesitó insulinoterapia. Se emprendieron estudios clínicos, metabólicos y genéticos con el fin de determinar las características particulares de la diabetes que presentan estas tres familias. RESULTADOS: Se investigaron tres árboles genealógicos -BK, SU y CA- conformados por 38, 48 y 113 miembros, respectivamente. Cada árbol presentaba herencia multigeneracional de diabetes tipo 2 de inicio temprano en al menos tres generaciones. En los tres árboles genealógicos, la media de la edad al momento del diagnóstico fue de 31,5 ± 2,9 años y 10 personas tenían menos de 25 años. Se observaron signos indicativos de sobrepeso, resistencia insulínica, baja secreción de insulina, dislipidemia y obesidad intrabdominal leve. No se hallaron anticuerpos contra las células de los islotes ni variantes en la secuencia de los genes MODY1 a MODY6. CONCLUSIONES: Algunas familias grandes de la población jamaiquina presentan herencia multigeneracional de la diabetes y otras características indicativas de diabetes tipo 2 de inicio temprano.

The burden of gestational diabetes mellitus in Jamaican women with a family history of autosomal dominant type 2 diabetes

OBJECTIVES: To determine if Jamaican women of African descent with a family history of early onset autosomal dominant type 2 diabetes have greater odds of developing gestational diabetes mellitus (GDM) than those without a family history of the disease. METHODS: A comparative study was conducted of two groups of pregnant Jamaican women: the first with a family history of early onset autosomal dominant type 2 diabetes; the second with no history of the disease. Incidence, odds for developing GDM, and metabolic profiles in first and second trimesters were assessed using SPSS 11.5 (SPSS Inc., Chicago, Illinois, United States). RESULTS: The incidence of GDM was 12.0 percent in women with a family history of early onset autosomal dominant type 2 diabetes and 1.5 percent in women without a family history of the disease (P < 0.05). Women with a family history were nine times more likely to develop GDM than those without a family history of diabetes (95 percent confidence interval: 5.00-16.38, P < 0.0001). CONCLUSION: Family history of early onset autosomal dominant type 2 diabetes appears to increase susceptibility to GDM in Jamaican women. Pregnant women of any age with family history of early onset autosomal type 2 diabetes should be screened for GDM.

OBJETIVOS: Determinar si las mujeres jamaicanas de ascendencia africana con antecedentes familiares de inicio temprano de diabetes autosómica dominante tipo 2 tienen mayor probabilidad de desarrollar diabetes mellitus gestacional (DMG) que las que no tienen esos antecedentes familiares. MÉTODOS: Se realizó un estudio comparativo con dos grupos de mujeres jamaicanas embarazadas: el primero con mujeres que tenían antecedentes familiares de inicio temprano de diabetes autosómica dominante tipo 2 y el segundo con mujeres sin antecedentes familiares de esa enfermedad. Se empleó el programa SPSS v. 11.5 (SPSS Inc., Chicago, Illinois, Estados Unidos de América) para analizar los resultados y calcular la incidencia, la probabilidad de desarrollar DMG y los perfiles metabólicos en el primer y el segundo trimestres de gestación. RESULTADOS: La incidencia de DMG fue de 12,0 por ciento en las mujeres con antecedentes familiares de inicio temprano de diabetes autosómica dominante tipo 2 y de 1,5 por ciento en las mujeres sin antecedentes familiares de esa enfermedad (P < 0,05). Las mujeres del primer grupo tuvieron nueve veces más probabilidades de desarrollar DMG que las del segundo grupo (intervalo de confianza de 95 por ciento: 5,00 a 16,38; P < 0,0001). CONCLUSIÓN: Los antecedentes familiares de inicio temprano de diabetes autosómica dominante tipo 2 aumentaron la predisposición a sufrir DMG en mujeres jamaicanas. Las mujeres embarazadas con antecedentes familiares de inicio temprano de diabetes autosómica tipo 2 deben someterse a pruebas de tamizaje para DMG, independientemente de su edad.

The role of C-peptide in the classification of diabetes mellitus

We investigated twenty-one insulin-using patients, who had all been labelled as having diabetes mellitus (IDDM) or type one diabetes. Physicians have been erroneously using the term IDDM loosely to include all diabetics on insulin. The clinical criteria of the National Diabetes Data Group/WHO were used to reclassify these patients. Only thirteen were found to have IDDM and eight non-insulin dependent diabetes mellitus (NIDDM). Using fasting C-peptide values, only five of the thirteen with clinical IDDM truly had IDDM, the others might have maturity onset diabetes of the young (MODY) or diabetes in the young. Of the eight with clinical NIDDM seven had normal to high C-peptide values; the lone patient with low C-peptide values had diabetes diagnosed at 64 years. We conclude that the clinical classification of diabetes mellitus may be inaccurate and that C-peptide evaluation improves the accuracy of the classification.

The age-prevalence profile of abdominal obesity among patients in a diabetes referral clinic in Jamaica

Generalised obesity is a major risk factor for cardiovascular disease, diabetes, hypertension and premature death, but abdominal or central obesity is even more closely related to these. Diabetes causes accelerated atherosclerosis and this results in peripheral vascular and ischaemic heart disease and stroke, major causes of death in diabetics in the Caribbean. Diabetics who have abdominal obesity are therefore at increased risk for these events. 485 patients attending the Diabetes Referral Clinic at the University Hospital of the West Indies, Jamaica, were evaluated for abdominal obesity based ont the ratio between their waist and hip measurements. There was an increase in the numbers of diabetics with increasing age. Abdominal obesity was significantly more prevalent among females (90 percent) than among males (34.9 percent) (X = 142; p < 0.0001), and massive obesity was detected in 31.1 percent of females. However, the prevalence of obesity among males and females was not significantly age-related. Given the high prevalence of obesity in this clinic population, more precise studies of abdominal obesity associated morbidity in diabetics should be undertaken.

Recurrence of endogenous cortisol secretion after bilateral total adrenalectomy: 2 cases

Bilateral total adrenalectomy is a common treatment for Cushing's Syndrome in underdeveloped countries where limited resources restrict the use of extensive investigations, where the source of ACTH secretion is not identified or where neurosurgical facilities are minimal. Two cases of recurrence of cortisol secretion managed at the University Hospital of the West Indies are presented. The aetiology is discussed.