A Case Report of a Rare 46,XX/47,XXY Mosaicism With Ovotesticular Disorder of Sex Development and a Literature Review.

Klinefelter syndrome (KS) is a common chromosomal abnormality in males, usually presenting as a 47,XXY karyotype and often underdiagnosed. Rarely, KS occurs as mosaic 46,XX/47,XXY. At the same time, ovotesticular disorder of sex development (OT-DSD) is also a rare condition in which both ovarian and testicular structures are present in the same individual, often associated with a 46,XX karyotype. The combination of mosaic 46,XX/47,XXY with OT-DSD is scarce. Herein, we report a new case of a six-month-old infant with unilateral OT-DSD and a 46,XX/47,XXY mosaic karyotype who presented with atypical genitalia at birth. On examination, the external genitalia showed asymmetry of the labioscrotal folds, an empty right fold, a 2.5 cm phallic structure, and a perineal urethral meatus. Imaging studies revealed a uterus and a vaginal cavity, as well as an ovotestis on the left side and an ovarian remnant on the right side. An unexpected increase in testosterone level was observed. Cytogenetics analysis confirmed a mosaic karyotype with 54% of 46,XX and 46% 47,XXY cells. Molecular genetic analysis revealed no mutations in the genes involved in gonadal development. These findings are discussed and the clinical characteristics of the reported cases of 46,XX/47,XXY with OT-DSD are summarized. In conclusion, atypical genitalia leads to the early diagnosis of the rare 46,XX/47,XXY mosaicism with OT-DSD. Mosaicism should be considered in all cryptorchidism cases. Persistent Müllerian structures were common, and the nearly male phenotype of the external genitalia led parents to prefer the male sex of rearing.

Drug Reaction with Eosinophilia and Systemic Symptom (DRESS) induced by carbamazepine: a case report and literature review.

Drug-induced hypersensitivity or Drug Reaction with Eosinophilia and Systemic Symptom (DRESS) is a severe adverse drug-induced reaction. Diagnosing DRESS is challenging due to the diversity of cutaneous eruption and organs involved. Most of the aromatic anticonvulsants, such as phenytoin, phenobarbital, and carbamazepine, can induce DRESS. Culprit drug withdrawal and corticosteroids constituted the mainstay of DRESS treatment. We describe a 6 year-old boy who presented fever and rash 4 weeks after starting carbamazepine. Investigation revealed leukocytosis, atypical lymphocytosis, and elevated serum transaminases. The diagnosis of DREES syndrome was made, Carbamazepine was stopped and replaced initially by Clobazam and by Valproic acid after discharge, no systemic corticotherapy was prescribed. Symptoms began to resolve within two weeks, and by one month later her laboratory values had returned to normal. The aim of this work is to raise awareness general practitioner and pediatricians to suspect Dress syndrome in patients who present with unusual complaints and skin findings after starting any antiepileptic drug.

Congenital insensitivity to pain with anhydrosis: report of a family case.

Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV. Pain insensitivity and autonomic deficits are present, but touch and pressure sensitivity are unimpaired. Mental retardation is usually present. We report a family case of a 5 years old girl and 2 years old boy with congenital insensitivity to pain, while discussing the clinical features and the anesthetic strategy of such patients. Patients with Congenital Insensitivity to Pain with anhydrosis may undergo surgery because of susceptibility to trauma due to absence of pain. The clinical features may intrinsically possess anesthetic challenges.