Cerebello- Oculo- Fascio-Genital Syndrome and Scrotal Agenesis with MAB21L1 Mutation; Case Report

Nalçacı S., Döğer E., Kaya C., Çamurdan M. O., Bideci A.

60th Annual Meeting of the European Society for Paediatric Endocrinology, Rome, Italy, 15 - 17 September 2022, vol.95, no.2, pp.383

  • Publication Type: Conference Paper / Summary Text
  • Volume: 95
  • City: Rome
  • Country: Italy
  • Page Numbers: pp.383
  • Gazi University Affiliated: Yes


Introduction: The most common congenital malformations of the scrotum are bifid scrotum, penoscrotal transposition, and ectopic scrotum. Scrotal agenesis is a very rare congenital anomaly characterized by the absence of scrotal rugae in the perineal tissue between the penis and anus. To date, 9 cases with complete scrotal agenesis have been described in the literature. Here, a case with complete scrotal agenesis with MAB21L1 homozygous mutation is presented to contribute to the literature. Case: The patient, who was consulted to our department due to scrotal anomaly, was born with a C/S at 40+1 week, 2890 gr. In his family history, there was a first degree cousin marriage between her parents. It was learned that the patient, who applied to the pediatric neurology department due to inability to follow objects and nystagmus at the age of 2 months, was diagnosed with cerebellar hypoplasia and also had corneal dystrophy. A homozygous deletion was found in the MAB21L1 gene in the whole exon sequencing analysis of the patient, who also had syndromic facial appearance. It was learned that the same change was defined as heterozygous in the segregation analysis of the parents. The patient applied to us with these complaints when he was 13 months old. On examination, sparse and adjacent eyebrows, hypertrichosis, narrow forehead, nystagmus and hairy nipples were evident. PSB: 5 cm, pubic hair stage 1, hypospadia was present and scrotum was not observed. No hormone dysfunction was observed in the laboratory examination. In his abdominal USG, bilateral testicles were seen in the distal part of the inguinal canal. Testosterone response to the hCG test was obtained. The patient was operated in pediatric surgery and the testicles were lowered to the scrotal location between the penis and anus and fixed under the skin. Conclusion: Scrotal agenesis is a very rare congenital anomaly. Here, we presented a case with MAB21L1 deletion, which is one of the causes of scrotal agenesis. In the literature, this mutation has been described in 10 individuals from 5 unrelated consanguineous families. Because the patients have similar clinical features, cases with MAB21L1 mutation were defined as cerebello-oculo- fasciogenital syndrome.