Damiani Durval, Guedes Dulce Rondina, Damiani Daniel, Setian Nuvarte, Maciel-Guerra Andréa T, Mello Maricilda Palandi de, Guerra-Júnior Gil
Unidade de Endocrinologia Pediátrica, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, SP.
Arq Bras Endocrinol Metabol. 2005 Feb;49(1):71-8. doi: 10.1590/s0004-27302005000100009. Epub 2006 Mar 16.
To show data on true hermaphrodites (TH) followed in two reference centers in the state of São Paulo.
Twenty-six TH patients have been followed from 1975 to 2004 in the Pediatric Endocrinology Unit, São Paulo University Medical School, and the other 10 patients from 1989 to 2004 in the GIEDDS-UNICAMP.
Clinical and pathological data were retrospectively analyzed, as well as the decision about the sex of rearing.
Genital ambiguity was the most frequent complaint (34/36 cases) and the age at the first appointment was 20 mo (median). In 55.6% of the patients the female option was taken. The most frequent karyotype was 46,XX (47.2%), followed by mosaicisms (27.8%). SRY was negative in all 46,XX TH patients and the prevalent gonad was ovotestis (OT-47%), followed by ovary (OV-27%) and testis (TT-24%). The prevalent gonadal associations were OV+TT (30.5%), OT+OT (22.2%) and OT+OV (22.2%). The decision about the sex of rearing did not depend on karyotype, phallus size, and testosterone levels. However, the location of the urethral meatus was taken into account in this decision: 20 (80%) patients out of the 25 with perineal urethra were reared as females while all 11 with "non-perineal" urethra were reared as males. In five 46,XX patients reared as females it was possible to maintain the ovarian portion of the ovotestis.
TH keeps on defying clinicians and investigators since most patients are 46,XX and SRY-negative, and yet they are able to develop testicular and ovarian tissues. The female sex of rearing seems to be the most adequate, and it is important to try to preserve, in these cases, the ovarian portion of the ovotestis, allowing the patient to have normal puberty and fertility.
展示圣保罗州两个参考中心所追踪的真两性畸形（TH）患者的数据。
1975年至2004年期间，圣保罗大学医学院儿科内分泌科对26例TH患者进行了追踪，另外10例患者于1989年至2004年在坎皮纳斯大学综合内分泌与发育疾病研究中心（GIEDDS - UNICAMP）接受追踪。
对临床和病理数据以及抚养性别的决定进行回顾性分析。
生殖器模糊是最常见的主诉（34/36例），首次就诊年龄为20个月（中位数）。55.6%的患者选择了女性抚养。最常见的核型是46,XX（47.2%），其次是嵌合体（27.8%）。所有46,XX的TH患者SRY均为阴性，最常见的性腺是卵睾（OT - 47%），其次是卵巢（OV - 27%）和睾丸（TT - 24%）。最常见的性腺组合是OV + TT（30.5%）、OT + OT（22.2%）和OT + OV（22.2%）。抚养性别的决定并不取决于核型、阴茎大小和睾酮水平。然而，尿道口位置在该决定中被考虑：25例会阴尿道患者中有20例（80%）被抚养为女性，而所有11例“非会阴”尿道患者均被抚养为男性。在5例被抚养为女性的46,XX患者中，有可能保留卵睾的卵巢部分。
TH仍然给临床医生和研究人员带来挑战，因为大多数患者是46,XX且SRY阴性，但他们仍能够发育出睾丸和卵巢组织。女性抚养似乎是最合适的，在这些病例中，尝试保留卵睾的卵巢部分很重要，这能使患者拥有正常的青春期和生育能力。
