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Type: Artigo de periódico
Title: Xx Maleness And Xx True Hermaphroditism In Sry-negative Monozygotic Twins: Additional Evidence For A Common Origin.
Author: Maciel-Guerra, Andréa Trevas
de Mello, Maricilda Palandi
Coeli, Fernanda Boechers
Ribeiro, Marcelo Lima
Miranda, Márcio Lopes
Marques-de-Faria, Antonia Paula
Baptista, Maria Tereza Matias
Moraes, Suzana Guimarães
Guerra-Júnior, Gil
Abstract: Differentiation of testicular tissue in 46,XX individuals is seen either in XX males, the majority of them with SRY gene, or in individuals, usually SRY(-), with ovotesticular disorder of sex development (OT-DSD). Although they are sporadic cases, there are some reports on familial recurrence, including coexistence of XX maleness and OT-DSD in the same family. We report on a case of SRY(-) 46,XX monozygotic twins with genital ambiguity. Hormonal evaluation included testosterone, FSH, and LH measurements. SRY gene was investigated by PCR and two-step PCR in peripheral leukocytes and gonadal tissues, respectively. Direct DNA sequencing of the DAX-1 coding sequence was performed. Real-time PCR for SOX9 region on chromosome 17 was obtained. Both twins had a 46,XX karyotype. Twin A had a 1-cm phallus with chordee, penoscrotal hypospadias, and palpable gonads. Serum levels of FSH (2.34 mIU/ml), LH (8.8 mIU/ml), and testosterone (1.6 ng/ml) were normal, and biopsies revealed bilateral testes. Twin B had a 0.5-cm phallus, perineal hypospadias, no palpable gonad on the right, and a left inguinal hernia. Hormonal evaluation revealed high FSH (8.2 mIU/ml) and LH (15 mIU/ml) and low testosterone (0.12 ng/ml). Upon herniotomy, a right testis (crossed ectopia) and a small left ovotestis were found. SRY gene was absent in both peripheral leukocytes and gonadal tissue samples. Neither DAX-1 mutations nor SOX9 duplication was identified. This case provides evidence that both XX maleness and XX OT-DSD are different manifestations of the same disorder of gonadal development.
Subject: Chromosome Aberrations
Dax-1 Orphan Nuclear Receptor
Dna-binding Proteins
Follicle Stimulating Hormone
Gonadal Dysgenesis, 46,xy
High Mobility Group Proteins
Infant, Newborn
Luteinizing Hormone
Ovotesticular Disorders Of Sex Development
Polymerase Chain Reaction
Receptors, Retinoic Acid
Repressor Proteins
Sox9 Transcription Factor
Sex-determining Region Y Protein
Transcription Factors
Twins, Monozygotic
Citation: The Journal Of Clinical Endocrinology And Metabolism. v. 93, n. 2, p. 339-43, 2008-Feb.
Rights: fechado
Identifier DOI: 10.1210/jc.2007-1115
Date Issue: 2008
Appears in Collections:Unicamp - Artigos e Outros Documentos

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