A novel mutation of 5α-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment

Molecular genetic characterization of mutations in SRD5A2 gene is used as an essential procedure for the final diagnosis of 5α-reductase deficiency. Here, we report a novel homozygous point mutation of SRD5A2 gene at codon 65 in exon 1, due to a proline for alanine substitution in a Turkish family whose proband has severe undervirilization. This mutation has not been reported up to date in association with 5α-reductase deficiency in various ethnic groups. We discussed some questions about gender assignment in addition to the molecular and clinical characteristics of the disease.     

Second Malignant Neoplasms Following Childhood Cancer: A Study of a Recent Cohort (1987–2004) from the Childhood Cancer Registry of The Rhône-Alpes Region (ARCERRA) in France

Studies of second malignant neoplasms (SMNs) in childhood are generally conducted in old cohorts. The aim of this study was to determine the actual incidence of all SMNs in a recent cohort. The authors studied a cohort of 2907 children included in the population-based Childhood Cancer Registry of the Rhône-Alpes Region for a first cancer diagnosed between 1987 and 2004. Total follow-up was 22,722 person-years, with a median follow-up of 9.8 years (range, 00.0–22.8 years). Fifty-four SMNs were reported in 52 patients. Overall median latency was 5.9 years. Cumulative incidence rates were 2.2% at 10 years and 3.9% at 15, with an overall standardized incidence ratio (SIR) of 13.9 (95% confidence interval [CI], 10.4–18.3) and absolute excess risk of 2.2. The SMNs were 12 thyroid carcinomas (SIR 57.1); 9 bone tumors (SIR 32.0); 8 leukemias (SIR 11.9); 5 lymphomas, all related to Epstein-Barr virus following allograft, (SIR 6.7); 5 CNS tumors (SIR 10.5); 4 soft tissue sarcomas (SIR 17.4); 4 carcinomas (no breast cancer); and 7 other cancers. Twelve SMNs appeared after total body irradiation, 16 after focal radiotherapy, and 8 leukemias after chemotherapy. The risk of secondary cancer was highest after retinoblastomas (SIR 41.8), Hodgkin lymphomas (SIR 20.8), leukemias (SIR 18.4), soft tissue sarcomas, CNS tumors, and bone tumors. These recent cohort findings show, on one hand, a high incidence of SMNs but do not capture breast cancers because of the relatively short follow-up and, on the other hand, a different distribution of first and second cancers.     

CDC Kerala 6: Validation of Language Evaluation Scale Trivandrum (0–3 y) Against Receptive Expressive Emergent Language Scale in a Developmental Evaluation Clinic Population

Objective

To validate Language Evaluation Scale Trivandrum (LEST) 0 – 3 y against the reference standard, Receptive Expressive Emergent Language Scale (REELS) in a population of children attending CDC developmental evaluation clinic 0 – 3 y.

Methods

All the children clinically diagnosed as having speech and language problem in the developmental evaluation clinic of CDC Kerala over a period of 3 y were assessed using LEST (0-3) by trained developmental therapist and REELS by a speech therapist, both blind to the results of each other.

Results

Out of a total of 761 children between 0-3 y diagnosed as having speech problems by a Developmental Pediatrician in the developmental evaluation clinic (0 – 3 y) of CDC Kerala, both LEST and REELS could be administered among 679 children. The screening tool LEST 0-3 had a high sensitivity (84.4%), specificity (80.3%), Positive Predictive Value (PPV) (91.5%), Negative Predictive Value (NPV) (67.1%) and accuracy (83.2%) against the reference standard REELS.

Conclusions

The observation of this study that LEST 0-3 had a high sensitivity, specificity and accuracy against REELS, suggest that in a developmental / speech evaluation clinic LEST could be effectively used in resource poor settings.