46,xx Dsd And Antley-bixler Syndrome Due To Novel Mutations In The Cytochrome P450 Oxidoreductase Gene [dds 46,xx E Síndrome De Antley-bixler Causada Por Novas Mutações No Gene Da Enzima P450 Oxidorredutase]

Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. 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Estrutura de estádios ontogenéticos em população nativa da palmeira Syagrus romanzoffiana (Cham.) Glassman (Arecaceae) Structure of ontogenetic stages in a native population of the palm Syagrus romanzoffiana (Cham.) Glassman (Arecaceae)

O jerivá tem importância ecológica e econômica, inclusive palmito de qualidade. Para conhecer características básicas do ciclo de vida desta espécie, estudou-se a população na floresta paludícola da Reserva Santa Genebra (Campinas, SP). Observações e medições foram feitas em 100 parcelas (5×5 m) e sub-parcelas (2×2 m) aleatórias, dentro de uma área de 1 ha, realizadas novamente após 400 &plusmn; 3 dias. Foram reconhecidos seis estádios ontogenéticos, distinguíveis no campo: plântula (folha inteira estreita), juvenil fase 1 (folha inteira, largura > 2 cm), juvenil fase 2 (folha segmentada), imaturo (folha segmentada e estipe aéreo), virgem (estipe aéreo e raízes caulígenas) e reprodutor (raízes caulígenas e presença periódica de estruturas reprodutivas). Para o reconhecimento das plântulas usaram-se características foliares, pois o momento da independência trófica não pôde ser determinado no campo, tendo, o estádio, longa existência sob a baixa luminosidade do sub-bosque. Ocorreu sobreposição de tamanhos e na produção de folhas, embora houvesse diferenças significativas, pelo menos entre alguns estádios. As estruturas e propriedades adquiridas ou perdidas em cada estádio representariam vantagens adaptativas sob circunstâncias diferentes durante a ontogenia do jerivá, como a germinação remota, que pode ajudar a explicar a ampla ocorrência da espécie, incluindo áreas mais secas, e raízes caulígenas, por melhorar a fixação e nutrição previamente à reprodução, na floresta paludícola.<br>Syagrus romanzoffiana is ecologically and economically important, including the production of good-quality hearts of palm. Aiming to describe this plant's basic life cycle, we studied a natural population in the swamp forest at the Santa Genebra Reserve, Campinas municipality, São Paulo state. Observations and measurements were made, and repeated after 400 &plusmn; 3 days, in 100 randomly located plots (5×5 m) and sub-plots (2×2 m), in an area of 1 ha. Six ontogenetic stages were recognized: seedling (narrow entire leaf), juvenile phase 1 (entire leaf, width > 2 cm), juvenile phase 2 (segmented leaf), immature (segmented leaf, aerial stem), virgin (aerial stem, cauligenous roots), and reproductive (cauligenous roots and periodic presence of reproductive structures). Since the moment of trophic independence could not be determined in the field, leaf characteristics were used to identify seedlings. Seedlings live for a long time in the low light of the understory. Even though significant differences could be observed, size and leaf production overlapped among different stages. Remote germination, used to explain the widespread occurrence of the species even in dry regions, and cauligenous roots that improve fixation and nutrition previous to reproduction in swamp forests, are morphological structures and properties acquired or lost in each stage that may represent adaptive advantages under different circumstances during ontogeny of S. romanzoffiana