Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?
Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?
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DOI：
10.1186/1687-9856-2013-15
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发表时间：
2013-09-12
期刊：
影响因子：
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通讯作者：
Rutter MM
中科院分区：
文献类型：
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作者：
Chuang J;Vallerie A;Breech L;Saal HM;Alam S;Crawford P;Rutter MM
17β-羟类固醇脱氢酶-3（17βHSD-3）缺乏是导致46，XY性发育障碍的罕见原因。这种酶将雄烯二酮转化为睾丸酮，这是子宫内男性生殖器男性化所必需的。17βHSD-3缺乏症通常诊断较晚，在青春期，在男性化之后，随后39- 64%的女性性别重新分配为男性。抚养的性别是很难决定的，特别是如果在幼儿期被诊断出来。共识指南模棱两可或支持男性性别分配。也缺乏指导决策的长期结果数据;然而，在少数早期诊断和睾丸切除术的病例中，女性性别保留似乎更有可能。我们报告了两例17βHSD-3缺乏症患者，他们出现在不寻常的年龄，其中女性被选择。我们对早期睾丸切除术后17βHSD-3缺乏症的性别结局进行了重点文献回顾和总结。患者A是一名表型女性，在一岁时出现双侧腹股沟疝和女性外生殖器。在手术中识别睾丸。核型为46，XY。她最初被诊断为完全雄激素不敏感综合征;然而，雄激素受体突变分析为阴性。人绒毛膜促性腺激素刺激产生低睾酮：雄烯二酮比率（0.6，正常>0.8）。基因检测证明了HSD 17 B3基因的两个已知突变的复合杂合性。她在两岁时接受了双侧睾丸切除术。患者B出生时有女性生殖器，13岁时男性化。她直到22岁才寻求评估。核型为46，XY。她有双侧腹股沟睾丸和低睾酮：雄烯二酮比率（0.3）。HSD 17 B3基因测序显示她是两个已知突变的复合杂合子。她自称为女性，接受了双侧睾丸切除术和雌激素替代治疗。这两例患者突出了17βHSD-3缺乏症诊断和治疗的复杂性。虽然现有的数据是有限的，早期睾丸切除术可能会导致保留女性性别认同，避免并发症与男性化在青春期。因此，重要的是要寻求明确的诊断，以指导临床决策，并与跨学科的性发育障碍团队的支持和长期随访。
17β-Hydroxysteroid dehydrogenase type-3 (17βHSD-3) deficiency is a rare cause of 46,XY disorders of sex development. The enzyme converts androstenedione to testosterone, necessary for masculinization of male genitalia in utero. 17βHSD-3 deficiency is frequently diagnosed late, at puberty, following virilization, with consequent female-to-male gender reassignment in 39-64%. The decision for sex of rearing is difficult, especially if diagnosed in early childhood. Consensus guidelines are equivocal or support male gender assignment. Long-term outcomes data to guide decisions are also lacking; however, in the few cases of early diagnosis and orchiectomy, female gender retention appears more likely. We report two patients with 17βHSD-3 deficiency, who presented at unusual ages, in whom female gender was chosen. We performed a focused literature review and summary of gender outcomes in 17βHSD-3 deficiency following early orchiectomy. Patient A was a phenotypic female who presented at one year of age with bilateral inguinal hernias and external female genitalia. Testes were identified at surgery. The karyotype was 46,XY. She was initially diagnosed with complete androgen insensitivity syndrome; however, androgen receptor mutation analysis was negative. Human chorionic gonadotropin stimulation yielded a low testosterone: androstenedione ratio (0.6, normal >0.8). Genetic testing demonstrated compound heterozygosity for two known mutations of the HSD17B3 gene. She underwent bilateral orchiectomy at two years of age. Patient B was born with female genitalia and virilized at 13 years of age. She did not seek evaluation until 22 years of age. Her karyotype was 46,XY. She had bilateral inguinal testes and low testosterone: androstenedione ratio (0.3). HSD17B3 gene sequencing showed her to be a compound heterozygote for two known mutations. She identified herself as female and underwent bilateral orchiectomy and estrogen replacement therapy. These two patients highlight the complexities of diagnosis and management in 17βHSD-3 deficiency. Although existing data are limited, early orchiectomy is likely to result in retention of female gender identity, avoiding the complications related to virilization in adolescence. As such, it is important to pursue a definitive diagnosis to guide clinical decisions, and to have the support and long term follow up with an inter-disciplinary disorders of sex development team.