Department of Endocrinology and Reproductive Medicine, University Hospital of Nice, 151, route de Saint-Antoine, 06200 Nice, France.
Department of Endocrinology and Reproductive Medicine, University Hospital of Nice, 151, route de Saint-Antoine, 06200 Nice, France.
Ann Endocrinol (Paris). 2019 Sep;80(4):234-239. doi: 10.1016/j.ando.2019.06.002. Epub 2019 Jul 8.
Congenital FSH deficiency is an exceptional cause of male infertility most often attributed to FSH β gene mutations. The few published cases report azoospermia, severe testicular hypotrophy and normal testosterone levels associated with normal virilization. We report the exploration of two young men aged 26 and 27 years with severe sperm abnormalities, moderate testicular hypotrophy and isolated FSH deficiency.
Several FSH, LH, total testosterone and inhibin B assays and FSH β gene sequencing were performed.
FSH was almost undetectable at baseline and poorly responsive to GnRH test, whereas LH was normal at baseline and increased after GnRH test. Testosterone levels were within the adult range, while inhibin B levels were upper-normal to high. No FSH β gene mutations were found. Exogenous FSH treatment was followed by spontaneous pregnancy in one case and required intra-cytoplasmic sperm injection (ICSI) in the other.
The paradoxical high levels of inhibin B reflect the presence of functional Sertoli cells and may explain the isolated FSH deficiency. An intra-gonadal factor stimulating inhibin B secretion is discussed.
先天性促卵泡激素（FSH）缺乏症是男性不育的一种罕见病因，通常归因于 FSHβ 基因突变。少数已发表的病例报告显示为无精子症、严重的睾丸发育不良和正常的睾酮水平，同时伴有正常的男性化。我们报告了对两名年龄分别为 26 岁和 27 岁的年轻男性进行的探索性研究，他们均存在严重的精子异常、中度睾丸发育不良和孤立性 FSH 缺乏症。
进行了多项 FSH、LH、总睾酮和抑制素 B 检测以及 FSHβ 基因测序。
基础状态下 FSH 几乎无法检测到，对 GnRH 试验的反应也很差，而 LH 在基础状态下正常，在 GnRH 试验后增加。睾酮水平处于成人范围内，而抑制素 B 水平处于正常上限至高水平。未发现 FSHβ 基因突变。在外源性 FSH 治疗后，一例患者自然妊娠，另一例患者需要进行胞浆内精子注射（ICSI）。
抑制素 B 的异常高水平反映了功能性支持细胞的存在，这可能解释了孤立性 FSH 缺乏症。我们讨论了一种刺激抑制素 B 分泌的性腺内因子。
