Analisis Mutasi Gen SRY dan AZF serta Fungsi Gonad pada Penderita 46,XY Disorder of Sex Development (DSD)

Abstract

Disorder of sex development (DSD) includes congenital conditions in which development of chromosomal,
gonadal or anatomy of urogenital is atypical. SRY and AZF genes have relationships with sex development and
fertility in 46,XY DSD patients. Therefore, the condition of those genes and gonadal function on 46,XY DSD patients
are needed to be explored deeply. The aim of this study was to know the incident number of SRY and AZF genes and
gonadal function of 46,XY DSD patients. So that it can be used as one of basic analyses of DSD and infertility status
on 46,XY DSD patients .
Methods: This is an observational descriptive study with cross sectional approach. This study involved 36 patients
that fulfilled the criteria of 46,XY DSD. The DNA of each sample was analyzed by PCR electrophoresis. The data of
hCG stimulation test were obtained from secondary data of patient’s medical record.
Results: A hundred percent (100%) of 36 samples did not have deletion on their SRY gene. About 22,22% of samples
had AZFa gene deletion especially on STS sY84. There were 19,44% samples that showed negative response to hCG
stimulation test. Chi square test showed that AZFa deletion did not have relation with gonadal response positifity on
46,XY DSD patients.
Conclusion: Patients of 46,XY DSD need to be evaluated for their fertility especially on the sperm analysis after
reaching puberty period. It is done to patients with positive or negative gonadal responses to know whether infertility
is influenced by AZF gene or other factors.