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hypospadias/potassio
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4 risultati
X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.
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BACKGROUND
X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
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BACKGROUND
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder that eventually progresses to renal failure, depending upon the extent of nephrocalcinosis. Its basic pathogenesis is impaired tubular resorption of magnesium and
Male pseudohermaphroditism due to 3 beta-hydroxysteroid dehydrogenase-isomerase deficiency associated with atrial septal defect.
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Male pseudohermaphroditism in a 6 month old boy, due to congenital 3 beta-hydroxysteroid dehydrogenase deficiency, associated with atrial septal defect, is reported. At 2 weeks he required therapy for severe dehydration and projectile vomiting. The parents were first cousins and one female sibling
[Clinical and genetic analysis of 11β-hydroxylase deficiency].
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OBJECTIVE
To explore the clinical and genetic characteristics of two patients with 11 β-hydroxylase deficiency (11 β-OHD).
METHODS
The clinical features and laboratory data were collected from the patients and their families. All exons of CYP11B1 gene were amplified by PCR. And the PCR product
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