Impact of deprivation on glycaemic control in youth with type 1 diabetes in the southwestern region of France.

OBJECTIVES: The objective of this multicenter cross-sectional study was to determine predictors of poor glycaemic control in children with type 1 diabetes mellitus (T1DM), particularly with respect to socioeconomic status (SES). METHODS: Our study population consisted of 1154 children who attended T1DM follow-up consultation with a pediatric diabetes specialist. Clinical and demographic data were retrieved retrospectively from patients' records. Individual deprivation was defined by an EPICES (Evaluation of the Deprivation and Inequalities of Health in Healthcare Centers) score ≥ 30. Patients were assigned to quintiles of the European Deprivation Index (EDI) based on their area deprivation scores. We used multivariable linear regression models to detect potential associations between glycaemic control and indicators of low SES. RESULTS: In total, 33% (n = 376) of patients had an EPICES score ≥ 30 and 23% (n = 268) were in the 5th EDI quintile. Multivariable linear regression analysis showed that poor glycaemic control was associated with both individual (ß 0.38; 95%CI 0.26-0.5; p < 0.001) and area deprivation (ß 0.26; 95%CI 0.08-0.43; p = 0.004). Demographic factors, body mass index (BMI) and insulin regimen were also independently associated with poor glycaemic control (p < 0.001). Interestingly, access to diabetes technologies was not related to SES or either glycaemic control. CONCLUSION: Low SES is associated with a higher risk of poor glycaemic control, independently of insulin regimen. BMI, age at the time of consultation, duration of diabetes, and insulin regimen. Also have an impact on HbA1c. These parameters need to be considered when developing novel treatment strategies for children with T1DM to better target at-risk patients.

Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.

CONTEXT: The SRY gene encodes a transcription factor responsible for initiating testis differentiation. Mutations in SRY almost always result in XY sex reversal with pure gonadal dysgenesis and an increased risk of gonadal tumor. Most of these mutations are de novo, affecting only one individual in a family. Only a small subset of mutations is shared between a phenotypically normal father and one or more of his affected children. Incomplete penetrance and somatic mosaicism are two hypotheses that may explain a normal phenotype in a father carrying a SRY mutation. PATIENTS AND RESULTS: We describe a family with two sisters with XY sex reversal and pure gonadal dysgenesis and a phenotypically normal brother. A novel constitutional frameshift SRY mutation was identified in both sisters and was absent in the brother. The single base pair deletion (c.71delA) led to a premature stop codon in position 60 of the protein, removing entirely the high-mobility group domain and the DNA-binding domain of SRY. The father of the three children presented with hypospadias; cryptorchidism; testicular seminoma and oligoasthenozoospermia, an association termed testicular dysgenesis syndrome (TDS); and the SRY mutation in a mosaic state in the peripheral blood and the tumor. CONCLUSIONS: This observation of somatic and germinal mosaicism for a SRY mutation may explain the variable penetrance in some familial gonadal dysgenesis. Importantly, the present report is the first one describing the association of SRY mutation in a male with TDS. This suggests that mutations in a sex-determining gene may contribute to the pathogenesis of TDS.