Guerra Júnior G, de Mello M P, Assumpção J G, Morcillo A M, Marini S H, Baptista M T, Paiva e Silva R B, Marqués-de-Faria A P, Maciel-Guerra A T
Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), São Paulo, Brazil.
J Pediatr Endocrinol Metab. 1998 Jul-Aug;11(4):519-24. doi: 10.1515/jpem.1998.11.4.519.
Sex ambiguity may be due to several disorders of gonadal differentiation, including true hermaphroditism (TH), as well as male and female pseudohermaphroditism. Although TH is a rare cause of intersex in Europe and North America, in Africa it presents one of the highest frequencies. The 46,XX karyotype has been found in the majority of the reported patients (70.6%), and aberrations in the sex chromosomes have been observed in about 22% of the cases. The 46,XY karyotype has been described as less frequent. Herein we describe ten cases of TH which have been diagnosed over the last 7 years, six lateral TH, two unilateral TH, and two cases of ovotestes with absent contralateral gonad. From a total of 18 gonads analyzed, there were 8 testes, 6 ovaries and 4 ovotestes. Nine subjects had originally a male sex assignment, and in three cases this was reverted to female. Four cases had a 46,XY karyotype. Additional sex chromosome aberrations had been found in four different cases [two 46,XX/46,XY, one 45,X/47,XYY, one 46,X,del(Yq)]. A 46,XX karyotype was found in only two individuals, and both were SRY negative. Our preliminary data, especially on the constitution of chromosomes and gonads, indicate marked differences from those in the literature.
性器官模糊可能归因于性腺分化的多种紊乱，包括真两性畸形（TH）以及男性和女性假两性畸形。虽然在欧洲和北美，TH是两性畸形的罕见病因，但在非洲却是发病率最高的病因之一。在大多数已报告的患者中（70.6%）发现了46,XX核型，约22%的病例观察到性染色体异常。46,XY核型的病例较少见。在此，我们描述了过去7年中诊断出的10例TH病例，6例双侧TH，2例单侧TH，以及2例对侧性腺缺失的卵睾病例。在总共分析的18个性腺中，有8个睾丸、6个卵巢和4个卵睾。9名受试者最初被指定为男性性别，其中3例后来改为女性。4例具有46,XY核型。在4个不同病例中发现了额外的性染色体异常[2例46,XX/46,XY, 1例45,X/47,XYY, 1例46,X,del(Yq)]。仅在2名个体中发现46,XX核型，且两者SRY均为阴性。我们的初步数据，特别是关于染色体和性腺构成的数据，表明与文献报道存在显著差异。
