Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
نویسندگان
چکیده
منابع مشابه
A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
متن کاملAmbiguous genitalia–A social dilemma in Bangladesh: A case report
INTRODUCTION Ambiguous Genitalia is a form of birth defect in which sex of the newborn cannot be readily distinguishable because of atypical appearance of the external genitalia. CASE REPORT-CLINICAL FINDINGS The patient, an 8 months old baby, was identified as a female baby since birth; but, some senior members of their neighborhood raised confusion regarding sex differentiation of the child...
متن کاملX-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
متن کاملAmbiguous genitalia and intersex.
Intersex disorders are rare congenital malformations with over 80% being diagnosed with congenital adrenal hyperplasia (CAH). It can be challenging to determine the correct gender at birth and a detailed understanding of the embryology and anatomy is crucial. The birth of a child with intersex is a true emergency situation and an immediate transfer to a medical center familiar with the diagnosi...
متن کاملEarly assessment of ambiguous genitalia.
T o discover that there is uncertainty about the sex of one’s newborn baby is devastating and often incomprehensible for most parents. It is paramount that clear explanations and investigations are commenced promptly, and that no attempt is made to guess the sex of the baby. Extreme sensitivity is required, and ideally the baby should be managed in a tertiary centre by a multidisciplinary team ...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2021
ISSN: 2296-2360
DOI: 10.3389/fped.2020.569548