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Hormone Research in Paediatrics, Vol. 73, Iss. 1, 2010-01 ,pp. : 41-48

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Identification of a Novel Heterozygous IGF1 Splicing Mutation in a Large Kindred with Familial Short Stature

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Pitfalls in the Diagnosis of 5α-Reductase Type 2 Deficiency during Early Infancy

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Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD

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Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

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