The Disorders of Sex Development are diseases that attend with genital and/or gonads
alterations that can damage the child’s psychosocial integrity; they should be early
investigated in any suspicious of atypical genitalia to define a proper clinical and surgical
management. OBJECTIVES: the present study tried to demonstrate the epidemiological and
clinical profile of the patients that have disorders of sex development and were consulted in
Pediatrics Endocrinology Clinic of Hospital Fundação Santa Casa de Misericórdia do Pará,
between August 2001 and October 2010. METODOLOGY: it was made an observational,
descriptive, transversal study of prevalence using 157 medical records, but just 132 fits in
inclusion and exclusion criteria, so was collected information about identification, familiar
and personal history, clinical suspicious, physical examination, diagnostics methods,
treatment options and follow-ups. All the data was stored, analyzed, coded and compiled
trough Microsoft Excel® 2003, Microsoft Word® 2003, Epi Info 3.5.2 and BioEstat 5.0, so
the tablets and graphics could be made and the central tendency measures and dispersion
measures could be obtained, besides parametric tests with level of significance (values equal
or minor than 0.05 reject the nullity hypothesis). RESULTS: 53.8% of the patients were
coming from Pará State’s interior; 48.5% were registered like man, otherwise the non registered patients were diagnosed earlier (p<0.05); 16.7% had atypical genital history in
family, 23.5% had neonatal death or abortion positive history and 7.6% had consanguinity
parents; 75.8% were born in Hospital; the first suspicious was made in 42.4% newborns,
54.5% by pediatricians, with information that when this suspicious was made by doctors, the
diagnosis was earlier (p<0.05); the first consult occurred in 32.6% infants; the Prader
classification wasn’t referred in 84.8% of the cases; the Tanner staging was considered
prepubescent in 74.2%; the clinical findings were, predominantly, hypospadia (n=43),
cryptorchidism (n=41) and clitorimegaly (n=27); 68.9% of the diagnosis occurred at
Pediatrics Endocrinology Clinic, with 36.2% infants; 100% of the patients done karyotype
exam, being the 46,XY the most frequent with 42.4% followed by 46,XX with 23.5%; 24.2%
realized histological examinations; 22.7% had congenital adrenal hyperplasia and 16.7% had
etiological diagnosis of Turner Syndrome; 31.9% started the treatment in preschoolers; 51.3%
started the treatment with less than three months from the etiological diagnosis; 34.1% did
just clinical treatment, against 18.9% did just surgical treatment; there was 5.3% of the
patients that needed to correct the creation sex; 65.2% were in psychological care; 28.8%
were doing irregular follow-ups, 37.1% abandoned the Clinic, which 30.6% returned to
Service. CONCLUSION: the Pediatrics Endocrinology Clinic Service is essential for the
management of the disorders of sex development. Otherwise the obtained results were very
close to what was verified in the literature, it’s observed that there is shortage information
about clinical and epidemiological profile of those patients, with plenty of limitation to care
protocol, exposing that is need to upgrade the medical education for an easy recognizing and
management against an atypical genitalia case, so the impacts in psychosocial life will be
reduced.
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