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hrp0084p3-780 | DSD | ESPE2015

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

Russo Gianni , Baldinotti Fulvia , Ghirri Paolo , Meroni Silvia , Colombo Ilaria , Moscuzza Francesca , Baroncelli Giampiero I , Sessa Maria R , Dati Eleonora , Bertelloni Silvano

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....

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hrp0086fc1.6 | Adrenals | ESPE2016

A Novel Syndrome of IUGR, Congenital Adrenal and Gonadal Insufficiency, Severe Infections, Thrombocytopenia and Monosomy 7 is Caused by SAMD9 Mutations

Buonocore Federica , Kuehnen Peter , Suntharalingham Jenifer , McKee Shane , Didi Mohammed , Brady Angela , Proctor Annie , Ghirri Paolo , Dimitri Paul , Blankenstein Oliver , Knoebl Dieter , Khajavi Noushafarin , Digweed Martin , Grueters Annette , Achermann John

Background: The association of intrauterine growth restriction (IUGR), adrenal insufficiency and gonadal dysgenesis is well recognised. Some children have been reported to develop monosomy 7 and myelodysplasia. However, the genetic basis of this condition was poorly understood.Objective and hypotheses: Our aim was to investigate the genetic basis of eight children with IUGR, adrenal insufficiency and gonadal failure and additional features including seve...

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ESPE Abstracts

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

A Novel Syndrome of IUGR, Congenital Adrenal and Gonadal Insufficiency, Severe Infections, Thrombocytopenia and Monosomy 7 is Caused by SAMD9 Mutations

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