| dc.description.abstract | Jacob syndrome, also known as XYY syndrome, is a genetic anomaly
distinguished by the presence of an additional Y chromosome,
resulting in a rare variation in sex chromosomes. Jacob syndrome is
a rare chromosomal aneuploidy that occurs in approximately 1 out
of every 1000 male newborns. Determining the diagnosis of Jacob
syndrome presents challenges. The patient in this case exhibited
genitalia of uncertain or indeterminate sex characteristics with
several comorbidities, including microcephaly, hypotonia, impaired
suction reflex, constipation, respiratory distress syndrome, stunted
growth, wide fontanelles, and umbilical hernia. In addition, the
genitalia showed ambiguous characteristic, penile chordee, and
hypospadias. Both testicles are palpable but are located in the ileum
region (undescensus testes). After confirming the presence of
testicles through physical examination, the patient underwent a
karyotype analysis, which revealed a chromosomal composition of
47, XYY with a mosaic pattern. The patient also had a thyroid
function examination in stable condition, indicating central
hypothyroidism. Orchidopexy, chordectomy, and urethroplasty
operations have been performed to correct genital abnormalities.
Speech delays and developmental disorders in patients are also the
main problems in Jacob syndrome patients. Cognitive Adaptive Test
(CAT)/ Clinical Linguistic & Auditory Milestone Scale (CLAMS)
(Caput scale) examination revealed that the patient had intellectual
dysfunction. The approach to both parents has been carried out by
approaching risk factors, current clinical conditions, and the
patient's prognosis in subsequent developments. | en_US |
