Oguz Kutlu Alev, Akbiyik Fatih, Kara Cengiz
Dr. Sami Ulus Children's Hospital, Department of Pediatric Endocrinology, Ankara, Turkey.
Am J Med Genet A. 2009 Feb 15;149A(4):742-5. doi: 10.1002/ajmg.a.32542.
Testicular regression may develop at various phases of the intrauterine period and the clinical findings vary depending on the timing of the intrauterine phase. On the other hand, postnatal regression of the testicles is rare and few cases have been reported in the literature. Our patient presented with undescended testicles, micropenis, flat scrotum and microcephaly. The patient's levels of basal luteinizing hormone (LH) were low/normal and follicle stimulating hormone (FSH) was high. No response was obtained in the human chorionic gonadotropin (HCG) stimulation test. The levels of inhibin B and anti Mullerian hormone (AMH) were found to be low. Penile growth response to intramuscular testosterone injections was 2.5 cm. Testicles were visualized bilaterally in inguinal canal by ultrasound examination initially but by 2 years of age no testicular tissue was observed during inguinal exploration. In conclusion we recognized postnatal testicular regression in our patient that had started in the intrauterine period and persisted into infancy. The genital system anomalies, microcephaly and motor retardation in our patient confirm the hypothesis of Parisi et al. of a novel condition of postnatal regression and micropenis.
睾丸退化可能在子宫内时期的各个阶段发生，临床发现因子宫内阶段的时间不同而有所差异。另一方面，出生后睾丸退化很少见，文献中报道的病例也很少。我们的患者表现为隐睾、小阴茎、阴囊扁平及小头畸形。患者基础促黄体生成素（LH）水平低/正常，促卵泡生成素（FSH）水平高。人绒毛膜促性腺激素（HCG）刺激试验无反应。抑制素B和抗苗勒管激素（AMH）水平低。肌肉注射睾酮后阴茎增长2.5厘米。最初超声检查在双侧腹股沟管可见睾丸，但到2岁时腹股沟探查未发现睾丸组织。总之，我们认识到我们的患者存在出生后睾丸退化，这种退化始于子宫内时期并持续到婴儿期。我们患者的生殖系统异常、小头畸形和运动发育迟缓证实了帕里西等人提出的关于出生后退化和小阴茎新病症的假说。
