title: Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome.
abstract: Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. The clinical presentation can vary from a typical male to female phenotype including all degrees of cryptorchidism, labial fusion, clitoromegaly, epispadias and hypospadias. It is the second most common cause of ambiguous genitalia in the neonatal period. We report a case of Mixed Gonadal Dysgenesis with an inverted Y chromosome.
authors.affiliation: Dept of Paediatric Surgery, TNMC & BYL Nair Hospital, Mumbai Central, Mumbai, Maharashtra. India, E-Mail ID: deepee.sweety@gmail.com.
authors.forename: Deepa
authors.initials: D
authors.lastname: Makhija
authors.affiliation: Dept of Paediatric Surgery, TNMC & BYL Nair Hospital, Mumbai Central, Mumbai, Maharashtra. India.
authors.forename: Hemanshi
authors.initials: H
authors.lastname: Shah
authors.affiliation: Dept of Paediatric Surgery, TNMC & BYL Nair Hospital, Mumbai Central, Mumbai, Maharashtra. India.
authors.forename: Charu
authors.initials: C
authors.lastname: Tiwari
authors.affiliation: Dept of Paediatric Surgery, TNMC & BYL Nair Hospital, Mumbai Central, Mumbai, Maharashtra. India.
authors.forename: Shalika
authors.initials: S
authors.lastname: Jayaswal
authors.affiliation: Dept of Paediatric Surgery, TNMC & BYL Nair Hospital, Mumbai Central, Mumbai, Maharashtra. India.
authors.forename: Jayesh
authors.initials: J
authors.lastname: Desale
mesh_terms: D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans; D008297:Male; D050090:Ovotesticular Disorders of Sex Development / Q000235:genetics*; D012729:Sex Chromosome Aberrations
keywords:  inverted Y chromosome;  mixed gonadal dysgenesis;  mosaicism ; disorders of sex development