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