Browsing by Author "Leite, Sara"
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- Acute abdominal pain in a 13-year-old female adolescentPublication . Monteiro Cunha, Sara; Leite, Sara; Vasconcelos, Sofia; Meireles, Carla; Gonzaga, Luís; São Simão, TeresaIntroduction: Ovarian torsion can occur at any pediatric age, mainly between the ages of 9 and 14 years. Diagnosis is challenging, as symptoms are nonspecific, misleading to other more common diagnoses, as genitourinary and gastrointestinal disorders. In children, ovarian lesions leading to torsion are typically benign and cystic. Surgical approach is safe, as most cases of early torsed ovary untwisting exhibit later normal ovarian function. Case report: A 13-year-old female adolescent was referred to the Emergency Department for vomiting, left low back pain, and diffuse abdominal pain with irradiation to the hypogastric area, associated with urinary symptoms. Abdomen was tender in the right iliac fossa and hypogastric area. Analytical study revealed increased inflammatory parameters, urinary test strip was negative, and pelvic computed tomography showed a cystic lesion of ovarian origin. Due to suspicion of cyst torsion, laparoscopic surgery was performed, revealing a necrotic adnexal torsion requiring adnexectomy. Discussion: Although often suspected, adnexal torsion is rarely confirmed. Although ovarian torsion accounts for a small number of all gynecological emergencies, it represents a common diagnostic challenge in the emergency setting. Conclusion: As ovary viability depends on early diagnosis, a high index of suspicion is required. This clinical case raises awareness of this entity in the differential diagnosis of lower abdominal pain in female children and adolescents.
- Ambiguous Genitalia: An Unexpected Diagnosis in a NewbornPublication . Losa, Ana; Da Silva Cardoso, Juliana; Leite, Sara; Barros, Ana Cristina; Guedes, Ana; Rodrigues, Cidade; Borges, Teresa; Oliva-Teles, Natália; Soares, Ana Rita; Mota, CéuAlterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatening nature of congenital adrenal hyperplasia, a common cause of DSD. We present a neonate born at 39 weeks with a weak cry, slight hypotonia, poor suction reflex, peculiar facies, and ambiguous genitalia. From the study carried out, the abdominopelvic ultrasound revealed a nodular structure compatible with the left gonad. Aneuploidy screening confirmed the presence of the Y chromosome. Additionally, normal endocrinological studies and the karyotype showed a genotype compatible with cri-du-chat syndrome with partial trisomy of chromosome 3. Children with cri-du-chat syndrome characteristically exhibit a cat-like cry and distinctive facial features, along with developmental delay and intellectual disability. Duplication of 3p is a rare genetic disorder, usually associated with other chromosomal anomalies and congenital malformations, namely, of the genitals