What question did this study set out to answer?

Investigate the underlying etiology of severe growth retardation, primary amenorrhea, and persistent electrolyte imbalances in an adolescent female.

January 1, 1986Folia Endocrinologica JaponicaOpen Access

A Case with 21-Hydroxylase Deficiency and Bartter's Syndrome Associated with a Ballanced 6-9 Translocation

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Authors

RYR YabeOhta Nishinouchi Hospital KMKenji MizunoTottori University Hospital MOMotoko OjimaTokyo Institute of Technology

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Implication

Case report demonstrates distinct coexistence of 21-hydroxylase deficiency and Bartter's syndrome in an adolescent female, indicating dual independent endocrine and renal pathologies.

Key Points

Investigate the underlying etiology of severe growth retardation, primary amenorrhea, and persistent electrolyte imbalances in an adolescent female.
Evaluated an individual 17-year-old female through hormonal profiling, arterial blood gas analysis, distal fractional chloride reabsorption testing, and kidney biopsy.
Conducted familial cytogenetic karyotyping and performed therapeutic interventions using dexamethasone, indomethacin, and potassium chloride.
Laboratory testing showed hypokalemic metabolic alkalosis (serum potassium 2.9 mEq/L), elevated plasma renin (15.5 ng/ml/h), aldosterone (107.1 ng/dl), and impaired chloride reabsorption (0.62 vs normal 0.92 ± 0.04).
Dexamethasone suppressed elevated adrenal steroid precursors but failed to normalize renin, aldosterone, or hypokalemic alkalosis, confirming independent Bartter's syndrome.
Cytogenetic analysis revealed a balanced t(6;9) translocation also present in healthy family members, indicating it was likely an incidental finding rather than the primary cause.

Cite This Study

Yabe et al. (1986) studied this question.

synapsesocial.com/papers/6a7cb9ed273accedbda8b1e1 https://doi.org/10.1507/endocrine1927.62.8_843

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Implication

Case report demonstrates distinct coexistence of 21-hydroxylase deficiency and Bartter's syndrome in an adolescent female, indicating dual independent endocrine and renal pathologies.

A Case with 21-Hydroxylase Deficiency and Bartter's Syndrome Associated with a Ballanced 6-9 Translocation

Discussion

Member takes

Implication

Key Points

Cite This Study

A Case with 21-Hydroxylase Deficiency and Bartter's Syndrome Associated with a Ballanced 6-9 Translocation

Discussion

Member takes

Implication

Key Points

Cite This Study

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