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To assess change in nutritional status in Indian under-five children from four rounds of national surveys (round 1 to 4).National Family Health Survey data from 4 rounds (1992-2016) were analyzed. Height and weight for age (HAZ, WAZ), and weight for height (WHZ) z scores were calculated. Children under -2 z score were classified as malnourished by HAZ, WAZ and WHZ.A greater reduction in stunting (from 54 to 38%, p 0.05) than in underweight (from 44 to 34%, p 0.05) and wasting (from 19 to 20%, p 0.1) status over the period of 4 NFHS rounds was observed from 1992 to 2016. In line with this, combination of improved height for age (-2.1 ± 1.8 to -1.5 ± 1.7) but relatively less improved weight for age (-1.8 ± 1.4 to -1.5 ± 1.2), the change in wasting status was either nil or meagre (-0.8 ± 1.4 to -0.9 ± 1.4), (p 0.05 for all). The percentage of children malnourished by all 3 indicators together reduced from 9 to 6% (p 0.05). At the 4Greater reduction in stunting than underweight and wasting was observed over the period of 4 rounds. There is a need for more focused efforts to combat malnutrition in rural children and boys.

Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disorders of sex development (DSD), with varying clinical phenotypes ranging from hypospadias to complete gonadal dysgenesis. Most often, the primary cause of DSD is due to variants in gene(s) related to gonadal development or the steroidogenic pathway. In the present study, we have analyzed 64 cases of 46,XY DSD for pathogenic NR5A1 variants. We report a total of 3 pathogenic variants of which 2 were novel (p.Gly22Ser and p.Ser143Asn) and 1 was already known (p.Ser32Asn). Functional studies have revealed that the 2 mutations p.Gly22Ser and p.Ser32Asn could significantly affect DNA binding and transactivation abilities. Further, these mutant proteins showed nuclear localization with aggregate formation. The third mutation, p.Ser143Asn, showed unspeckled nuclear localization and normal DNA binding, but the ability of transcriptional activation was significantly reduced. In conclusion, we recommend screening for NR5A1 pathogenic variants in individuals with features of 46,XY DSD for better diagnosis and management.

Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disorders of sex development (DSD), with varying clinical phenotypes ranging from hypospadias to complete gonadal dysgenesis. Most often, the primary cause of DSD is due to variants in gene(s) related to gonadal development or the steroidogenic pathway. In the present study, we have analyzed 64 cases of 46,XY DSD for pathogenic NR5A1 variants. We report a total of 3 pathogenic variants of which 2 were novel (p.Gly22Ser and p.Ser143Asn) and 1 was already known (p.Ser32Asn). Functional studies have revealed that the 2 mutations p.Gly22Ser and p.Ser32Asn could significantly affect DNA binding and transactivation abilities. Further, these mutant proteins showed nuclear localization with aggregate formation. The third mutation, p.Ser143Asn, showed unspeckled nuclear localization and normal DNA binding, but the ability of transcriptional activation was significantly reduced. In conclusion, we recommend screening for NR5A1 pathogenic variants in individuals with features of 46,XY DSD for better diagnosis and management.