Background: The concurrence of transverse testicular ectopia (TTE) with persistent müllerian duct syndrome (PMDS) is extremely rare. Here, we report a case of TTE with PMDS in a 7-month-old male infant presenting with inguinal hernia and a novel homozygous mutation in the AMH gene. CASE REPORT: A 7-month-old male infant presented to pediatric surgery department with an inguinal hernia on the left side and bilateral undescended testis. During left herniotomy, tissues suggestive of a rudimentary uterus with fallopian tubes and testes like structures on both sides of uterus were observed. A biopsy of the gonads and structure located midline to the gonads was performed and the patient was referred to pediatric endocrinology department. At physical examination, the testes were not palpable and the phallus was 4x1.2 cm in length. Parents were first-degree relatives. The laboratory examination revealed normal gonadotropin levels for his age (FSH: 0.92 IU/ l, LH: 1.17 IU/l, total testosteron 0.025 ng/ml). Serum anti-müllerian hormone level was <0.02 ng/mL (N: 24.2275.4 ng/ml). Karyotype was XY. AMH gene sequence analysis performed with a preliminary diagnosis of AMH gene mutation revealed a previously undescribed homozygous IVS2-3C>G (c.556-3C>G) mutation.
Conclusion: If patients had a unilateral inguinal hernia and contralateral cryptorchidism, TTE with PMDS should be considered. The mutation detected in the AMH gene is associated with PMDS and its phenotype is variable.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology