3beta hidroxiesteroide deshidrogenasa

Al-Jurayyan (2011) conducted a retrospective study in the pediatric endocrine clinic at a university hospital Saudi Arabia during the period 1989-2008. Medical records of 81 children with ambiguous genitalia were reviewed. Fifty three (65%) of the patients were genetically females (46XX). Male genetic sex (46XY) was present in only 28 (35%) patients with a diversity of causes; multiple congenital anomalies in nine (32%), local anorectal anomalies in two (7%), congenital adrenal hyperplasia (3-beta-hydroxysteroid dehydrogenase deficiency) in two (7%), 5-alpha-reductase deficiency in four (14%), partial androgen insensitivity in three (11%), complete androgen insensitivity in four (14%), and hypogonadotrophin deficiency in four (14%). Twenty-five (47%) of females were wrongly assigned as males, where only two (7%) males were wrongly assigned as females.

Stephen Kemp, MD, PhD  Former Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics , American Association of Clinical Endocrinologists , American Pediatric Society , Endocrine Society , Phi Beta Kappa , Southern Medical Association , Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Individuals who are genetically male and have two copies of a mutated gene in each cell are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency . People with two mutations who are genetically female do not usually experience any signs and symptoms of this disorder.

The fetal adrenal cortex lacks expression of the enzyme early on, thus mineralocorticoids (. aldosterone ) and glucocorticoids (. cortisol ) cannot be synthesized. This is significant because cortisol induces type II pneumocytes of the lungs to synthesize and secrete pulmonary surfactant ; without pulmonary surfactant to reduce the alveolar surface tension , premature neonates may die of neonatal respiratory distress syndrome . If delivery is unavoidable (. because of placental abruption , or pre-eclampsia / HELLP syndrome ), then glucocorticoids (. cortisol) can be administered.

3beta hidroxiesteroide deshidrogenasa

3beta hidroxiesteroide deshidrogenasa

The fetal adrenal cortex lacks expression of the enzyme early on, thus mineralocorticoids (. aldosterone ) and glucocorticoids (. cortisol ) cannot be synthesized. This is significant because cortisol induces type II pneumocytes of the lungs to synthesize and secrete pulmonary surfactant ; without pulmonary surfactant to reduce the alveolar surface tension , premature neonates may die of neonatal respiratory distress syndrome . If delivery is unavoidable (. because of placental abruption , or pre-eclampsia / HELLP syndrome ), then glucocorticoids (. cortisol) can be administered.

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