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Il diabete monogenico da deficit di glucochinasi (MODY 2) spesso non viene diagnosticato oppure viene classificato come diabete tipo 2; quando l’iperglicemia viene riscontrata per la prima volta in gravidanza, esso puo essere scambiato per diabete gestazionale (GDM). La prevalenza di MODY 2 tra le donne con GDM varia dallo 0 al 6%, in base ai criteri di selezione utilizzati per inviare le pazienti al test genetico. Infatti, non vi e ancora totale accordo su quali siano i criteri che permettano di individuare con il migliore rapporto costo-beneficio le pazienti a piu alto rischio; i piu utili sembrano essere il BMI e la glicemia a digiuno anche se, utilizzando diversi cut-off, specificita e sensibilita variano. La gestione del MODY 2 in gravidanza e ancora oggetto di dibattito. Il problema principale e che il genotipo fetale sembrerebbe influenzare la crescita fetale in risposta all’iperglicemia materna per cui, mentre i feti non portatori della mutazione materna rischierebbero le medesime complicanze di tutti i figli di madre diabetica (macrosomia, ipoglicemia neonatale, ecc.), i feti portatori della mutazione necessiterebbero di elevati valori di glicemia materna per avere un’adeguata secrezione insulinica e, quindi, una normale crescita. Di conseguenza, alcuni autori suggeriscono di sottoporre le donne MODY 2 in gravidanza a terapia insulinica solo se il feto non ha ereditato la mutazione; esistono altri studi in cui non si e osservata una differenza significativa riguardo il peso alla nascita dei neonati affetti in base alla terapia effettuata in gravidanza (dieta o insulina). Tuttavia, di solito il genotipo fetale non e noto fino alla nascita; pertanto, sarebbe necessario seguire la crescita fetale tramite ecografie seriate e iniziare la terapia insulinica solo in caso di eccessiva crescita, fin quando lo sviluppo di nuove metodiche diagnostiche non invasive, come l’estrazione del DNA fetale dal sangue materno, non permettera una diagnosi precoce e, quindi, una piu accurata gestione terapeutica. Infine, non vi e alcun dato su quali dovrebbero essere i target glicemici nelle gravidanze MODY 2 che, in base a quanto detto fino ad ora, potrebbero essere diversi in base al genotipo fetale.

Aims/hypothesis The aim of this study was to develop a core outcome set (COS) for trials and other studies evaluating the effectiveness of prepregnancy care for women with pregestational (pre-existing) diabetes mellitus. Methods A systematic literature review was completed to identify all outcomes reported in prior studies in this area. Key stakeholders then prioritised these outcomes using a Delphi study. The list of outcomes included in the final COS were finalised at a face-to-face consensus meeting. Results In total, 17 outcomes were selected and agreed on for inclusion in the final COS. These outcomes were grouped under three domains: measures of pregnancy preparation (n = 9), neonatal outcomes (n = 6) and maternal outcomes (n = 2). Conclusions/interpretation This study identified a COS essential for studies evaluating prepregnancy care for women with pregestational diabetes. It is advocated that all trials and other non-randomised studies and audits in this area use this COS with the aim of improving transparency and the ability to compare and combine future studies with greater ease. Electronic supplementary material The online version of this article (doi:10.1007/s00125-017-4277-4) contains peer-reviewed but unedited supplementary material, which is available to authorised users.

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Every 10 years, the Diabetic Pregnancy Study Group, a study group of the EASD, conducts an audit meeting to review the achievements of the preceding decade and to set the directions for research and clinical practice improvements for the next decade. The most recent meeting focused on the following areas: improving pregnancy outcomes for women with pregestational type 1 diabetes and type 2 diabetes; the influence of obesity and gestational diabetes on pregnancy outcomes; the determinants and assessment of fetal growth and development; and public health issues, including consideration of transgenerational consequences and economic burden. The audit meeting also considered the likely impact of ‘omics’ on research within the field and the potential of these technologies to enable precision-medicine approaches to management. Through sharing of the findings and ideas of audit meeting participants, the DPSG hopes to promote networking, research and advances in clinical care, to improve outcomes for all women and their offspring affected by diabetes and obesity in pregnancy.

Thyroid autoimmunity is very frequent in women of reproductive age and is associated with many adverse pregnancy outcomes; also, diabetes mellitus in pregnancy, of any type, is associated to many complications. In type 1 diabetes, the prevalence of thyroid autoimmunity is higher than in healthy population. Instead, the association of thyroid autoimmunity with other types of diabetes is less clear; however, there are some studies claiming that the prevalence is higher in gestational diabetes too. Poor data about type 2 diabetes in pregnancy are available. It is also unclear how diabetes and thyroid function influence each other and if levothyroxine therapy is necessary in pregnancy with positive autoimmunity but normal thyroid function.The aim of this article was to find in the literature studies on thyroid autoimmunity in different types of diabetes in pregnancy, in order to detect any difference in prevalence. Data were found through pubmed database from 1990 to 2013.Several studies found a higher prevalence of thyroid autoimmunity in GDM compared to healthy controls; therefore it would be appropriate to extend screening for thyroid diseases to women with GDM. More studies are needed on the possible requirement of therapy for thyroid autoimmunity when the function is normal.

To determine the frequency and the determinants of use of antiretroviral drugs and prophylaxis for Pneumocystis carinii Pneumonia (PCP) among HIV-infected individuals before AIDS diagnosis, a questionnaire was sent to all physicians reporting at least one AIDS case during the first six months of 1994 to the Italian National AIDS Registry. Information on cases diagnosed between 1 January and 31 March 1995 was collected. Information was obtained for 878 (66.4%) of the 1323 persons with AIDS: 447 (50.9%) had received antiretroviral drugs and 343 (39.1%) PCP prophylaxis, whereas 303 cases (34.5%) had received both. Individuals who became aware of being HIV-positive shortly before AIDS diagnosis were less likely to have started antiretroviral therapy (adjusted odds ratio (AOR): 0.05, 95% CI: 0.03–0.09). Homosexual men and heterosexuals were more likely to begin therapy (AOR: 1.40, 95% CI: 0.83–2.37 and AOR: 1.79, 95% CI: 1.05–3.05, respectively) compared to injecting drug users. Individuals living in Southern Italy and foreigners were less likely to start therapy (AOR: 0.75, 95% CI: 0.49–1.16 and AOR: 0.40, 95% CI: 0.15–1.09, respectively) compared to those living in Northern Italy. Results were similar for PCP prophylaxis. Lack of awareness of HIV infection, HIV exposure category, and geographical area were the most important factors associated with treatment before AIDS diagnosis.