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gonadal dysgenesis/potasio
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Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.
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17-hydroxylase/17,20-lyase deficiency (17-OHD), a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics and frequently associated with hypertension and hypokalemia. Here, we report a 46,XY case who had normal potassium levels and
Two cases of 17 alpha-hydroxylase deficiency--one combined with complete gonadal agenesis.
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Two cases of 17 alpha-hydroxylase deficiency are described. Both patients had primary amenorrhoea, total lack of female secondary sexual characteristics, slight hypertension and hypokalaemia. One patient was of male genotype (male pseudohermaphrodite), and in addition this patient had complete
[Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency].
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OBJECTIVE
To explore the clinical and genetic characteristics of an infant with isolated 17, 20-lyase deficiency.
METHODS
The clinical, biochemical and genetic characteristics were analyzed in an 8-month-old infant with 46, XY gonadal dysgenesis who presented predominantly the female external
[17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child].
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A 14-year-old female (social gender) patient was admitted to the hospital due to severe hypertension for 11 days. The patient had primary amenorrhea. The blood pressure was 146/90 mm Hg. The skin color was slightly black. The development of secondary sexual characteristics was poor. The labia majora
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