Donadille Bruno, Houang Muriel, Netchine Irène, Siffroi Jean-Pierre, Christin-Maitre Sophie
Service d'Endocrinologie et Médecine de la ReproductionCentre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Service d'Explorations Fonctionnelles EndocriniennesCentre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France.
Endocr Connect. 2018 Mar;7(3):395-402. doi: 10.1530/EC-17-0306. Epub 2018 Feb 2.
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available concerning adult testicular function in such patients. We had the opportunity to study gonadal axis and testicular function in a 46,XY adult patient, carrying a mutation. He presented at birth a neonatal salt-wasting syndrome. He had a micropenis, a perineal hypospadias and two intrascrotal testes. gene sequencing revealed 687del27 homozygous mutation. The patient achieved normal puberty at the age of 15 years. Transition from the paediatric department occurred at the age of 19 years. His hormonal profile under hydrocortisone and fludrocortisone treatments revealed normal serum levels of 17OH-pregnenolone, as well as SDHEA, ACTH, total testosterone, inhibin B and AMH. Pelvic ultrasound identified two scrotal testes of 21 mL each, without any testicular adrenal rest tumours. His adult spermatic characteristics were normal, according to WHO 2010 criteria, with a sperm concentration of 57.6 million/mL ( > 15), 21% of typical forms ( > 4%). Sperm vitality was subnormal (41%; > 58%). This patient, in contrast to previous reports, presents subnormal sperm parameters and therefore potential male fertility in a 24-years-old patient with severe 3b-HSD deficiency. This case should improve counselling about fertility of male patients carrying mutation.
人类3β-羟基类固醇脱氢酶缺乏症（3b-HSD）是一种由基因突变导致的非常罕见的先天性肾上腺皮质增生症。出生时的估计患病率低于1/1,000,000。它会导致肾上腺和性腺的类固醇生成受损。关于此类患者成年期睾丸功能的数据很少。我们有机会研究一名携带突变的46,XY成年患者的性腺轴和睾丸功能。他出生时患有新生儿失盐综合征。他有小阴茎、会阴型尿道下裂和两个阴囊内睾丸。基因测序显示存在687del27纯合突变。该患者在15岁时青春期发育正常。19岁时从儿科转诊。他在接受氢化可的松和氟氢可的松治疗时的激素水平显示，血清17OH-孕烯醇酮、硫酸脱氢表雄酮、促肾上腺皮质激素、总睾酮、抑制素B和抗苗勒管激素水平正常。盆腔超声检查发现两个阴囊内睾丸，每个体积为21 mL，未发现任何睾丸肾上腺残余肿瘤。根据世界卫生组织2010年标准，他的成年精子特征正常，精子浓度为5760万/mL（>15），典型形态占21%（>4%）。精子活力低于正常水平（41%；>58%）。与之前的报道不同，该患者表现出精子参数低于正常水平，因此在一名患有严重3b-HSD缺乏症的24岁患者中存在潜在的男性生育能力问题。该病例应改善对携带突变的男性患者生育问题的咨询。
