publication . Article . 2013

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

Mirian Yumie Nishi; Martins, Thais Cotrim; Frade Costa, Elaine Maria; Mendonca, Berenice Bilharinho; Giron, Amilcar Martins; Domenice, Sorahia;
Open Access
  • Published: 01 Mar 2013 Journal: Arquivos Brasileiros de Endocrinologia & Metabologia, volume 57, pages 148-152 (eissn: 0004-2730, Copyright policy)
  • Publisher: FapUNIFESP (SciELO)
Chromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary sexual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and t...
free text keywords: Endocrinology, Diabetes and Metabolism, General Medicine, Chromosomal inversion, Epispadias, medicine.disease, medicine, Endocrinology, medicine.medical_specialty, Y chromosome, Karyotype, business.industry, business, Testis determining factor, Internal medicine, Genitourinary system, Bladder exstrophy, Short stature, medicine.symptom
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