Genetic Disorders Underlying Disorders of Sex Development

In total, 35 unrelated patients were recruited from Shengjing Hospital of China Medical University, all patients came for consultation because of disorder of sex development (DSD) (Table S1). In family 1, the proband (patient 1) manifested as small penis, cryptorchidism, and testicular dysplasia. In family 2, the proband (patient 2) phenotyped as small penis and testicular dysplasia. In family 3, the proband (patient 3) and his nephew showed cryptorchidism, left renal agenesis, and olfactory disorder. In family 4, the proband (patient 4) manifested as small penis, olfactory disorder, testicular dysplasia and polydactylism. In family 5, the proband (patient 5) phenotyped as cryptorchidism and testicular dysplasia.

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Chu G., Li P., Zhao Q., He R, & Zhao Y. (2023). Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1. Reproductive Biology and Endocrinology : RB&E, 21, 23.

Publication 2023

Cryptorchidism Olfactory Patient Penis Polydactylism Renal agenesis Sex development disorder Testicular

Corresponding Organization :

Other organizations : China Medical University

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Variable analysis

independent variables

Not explicitly mentioned

dependent variables

Small penis
Cryptorchidism
Testicular dysplasia
Left renal agenesis
Olfactory disorder
Polydactylism

control variables

Not explicitly mentioned

controls

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