ESPE Abstracts (2021) 94 P2-442


1Department of Endocrinology, Growth and Development, “P. & A. Kyriakou” Children’s Hospital, Athens, Greece; 22nd Department of Paediatrics, University of Athens, “P. & A. Kyriakou” Children’s Hospital, Athens, Greece; 3Sorbonne University, CRSA - Inserm UMRS 938, Paris, France; 42nd Department of Pediatric Surgery, “P. & A. Kyriakou” Children’s Hospital, Athens, Greece

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission.

Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.

Case presentation: An 18- days- old male infant, with a known history of bilateral cryptorchidism, presented with a left-sided obstructed inguinal hernia. He was born at 38 weeks gestation with a birth weight of 3300 grs with no perinatal complications. On clinical examination he had normal penile length. Pelvic ultrasonography indicated two testes inside the left scrotum along with uterine tissue extended through the inguinal canal. The inguinal exploration revealed a hernial sac containing both testes and a uterus with fallopian tubes. During hernia repair surgery, all of the tissues were pushed back into the peritoneal cavity and biopsy samples were taken. Endocrine evaluation revealed normal levels of gonadotrophins, testosterone, cortisol and 17-ΟΗ-progesterone (FSH: 1.96 mIU/ml, LH: 10.25 mIU/ml, testosterone: 1.26 ng/ml, 17-OHP: 2.5 ng/ml, cortisol: 7.5 μg/dl) and low levels of estradiol (Ε2: 5.3 pg/ml). Serum AMH level was low: 160 pmol/l (normal range: 228-4280). Karyotyping confirmed a male gender (46 XY). The histopathological diagnosis confirmed the presence of Müllerian- derived tissues. Genetic studies revealed that our patient was heterozygous for two recessive mutations. The first one was a frequent deletion of 27 pairs of bases in the 10th of 11 exons of the gene, while the second one was a novel 2 base pair deletion mutation in the 6th exon. One year later and after confirmation of the diagnosis, removal of the Mullerian remnants and orchidopexy were performed.

Conclusions: PMDS is a rare congenital condition, usually presented as cryptorchidism with associated inguinal hernia. It is classified as a 46 XY DSD. The surgical approach of bilateral orchidopexy and hernia repair with or without removing Mullerian structures is the optimal treatment. The main therapeutic targets are the potential for fertility and prevention of malignant transformation. Gonadal biopsy and genetic testing should be carried out in order to rule out other disorders. The diagnosis and treatment of neonates with DSD should be undertaken by a multidisciplinary team that consists of pediatric endocrinologists, urologists, surgeons, neonatologists, geneticists and psychologists.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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