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1.
J Clin Endocrinol Metab ; 106(7): e2656-e2663, 2021 06 16.
Artículo en Inglés | MEDLINE | ID: mdl-33686417

RESUMEN

CONTEXT: Primary ovarian insufficiency (POI) is defined by menopause before 40 years of age. POI prevalence is higher among women with autoimmune Addison's disease (AAD) than in the general population, but their clinical characteristics are insufficiently studied. OBJECTIVE: To assess the prevalence of POI in a large cohort of women with AAD and describe clinical, immunological, and genetic characteristics. METHODS: An observational population-based cohort study of the Norwegian National Addison Registry. The Norwegian Prescription Database was used to assess prescription of menopausal hormone replacement therapy (HRT). A total of 461 women with AAD were studied. The primary outcome measure was prevalence of POI. Secondary outcomes were clinical characteristics, autoantibodies, and genome-wide single nucleotide polymorphism variation. RESULTS: The prevalence of POI was 10.2% (47/461) and one-third developed POI before 30 years of age. POI preceded or coincided with AAD diagnosis in more than half of the women. The prevalence of concomitant autoimmune diseases was 72%, and AAD women with POI had more autoantibodies than AAD women without (≥2 autoantibodies in 78% vs 25%). Autoantibodies against side-chain cleavage enzyme (SCC) had the highest accuracy with a negative predictive value for POI of 96%. HRT use was high compared to the age adjusted normal population (11.3 % vs 0.7%). CONCLUSION: One in 10 women with AAD have POI. Autoantibodies against SCC are the most specific marker for autoimmune POI. We recommend testing women with AAD <40 years with menstrual disturbances or fertility concerns for autoantibodies against SCC.


Asunto(s)
Enfermedad de Addison/genética , Enfermedad de Addison/inmunología , Menopausia Prematura/genética , Menopausia Prematura/inmunología , Insuficiencia Ovárica Primaria/epidemiología , Enfermedad de Addison/complicaciones , Adulto , Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Enzima de Desdoblamiento de la Cadena Lateral del Colesterol/inmunología , Femenino , Terapia de Reemplazo de Hormonas/estadística & datos numéricos , Humanos , Menopausia Prematura/sangre , Noruega/epidemiología , Polimorfismo de Nucleótido Simple , Valor Predictivo de las Pruebas , Prevalencia , Insuficiencia Ovárica Primaria/genética , Insuficiencia Ovárica Primaria/inmunología , Sistema de Registros
2.
J Clin Transl Endocrinol ; 10: 9-14, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29204366

RESUMEN

AIM: Scant information is available about the prevalence of diabetic polyneuropathy, as well as the applicability of screening tools in sub-Saharan Africa. We aimed to investigate these issues in Zanzibar (Tanzania). METHODS: One hundred consecutive diabetes patients were included from the diabetes clinic at Mnazi Mmoja Hospital. Clinical characteristics were recorded. Further, we investigated: a) self-reported numbness of the lower limbs, b) ten-point monofilament test, c) the Sibbald 60-s Tool and d) nerve conduction studies (NCS, using an automated handheld point-of-care device, the NC-stat DPNCheck). RESULTS: Mean age was 54 years, 90% had type 2 diabetes, and with 9 year average disease duration. Mean HbA1c was 8.5% (69 mmol/mol), blood pressure 155/88 mmHg. Sixty-two% reported numbness, 61% had positive monofilament and 79% positive Sibbald tool. NCS defined neuropathy in 45% of the patients. Only the monofilament showed appreciable concordance with the NCS, Cohen's κ 0.43. CONCLUSIONS: The patient population was characterised by poor glycaemic control and hypertension. In line with this, neuropathy was rampant. The monofilament test tended to define more cases of probable neuropathy than the NCS, however specificity was rather low. Plantar skin thickening may have led to false positives in this population. Overall concordance was, however, appreciable, and could support continued use of monofilament as a neuropathy screening tool. The NC-stat DPNCheck could be useful in cases of diagnostic uncertainty or for research purposes in a low resource setting.

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