introduction: cloacal malformation is an extremely rare fetal pathological condition but an important anomaly that presents as a variety of defects. it predominantly affects females, with prevalence of 1 in 50,000 births. prenatal ultrasonography usually showed oligohydramnios and the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambiguous...

BACKGROUND Congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46XY genetic males. CASE CHARACTERISTICS Two patients (46 XY karyotype), one having ambiguous genitalia and other having female external genitalia, presented with adrenal crisis at 6 months and 4 weeks of age, respectively. OBSERVATION Steroidogenic Acute Regulatory Protein gene sequenci...

Introduction: Cloacal malformation is an extremely rare fetal pathological condition but an important anomaly that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography usually showed oligohydramnios and the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambig...

OBJECTIVE To report a case of type 2 Antley-Bixler syndrome (ABS). SUBJECT AND METHODS A 3-year-old boy who had been raised male, with facial dimorphism and malformations of both elbows and forearms, was referred to our unit for ambiguous genitalia. Genetic testing confirmed the diagnosis of ABS. A surgical intervention was performed to correct the ambiguous genitalia through a combined perin...

INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to he...