In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 93, No. 2 ( 2020), p. 137-142
Kurzfassung:
〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 We present a patient with co-existence of 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency and Bartter syndrome, a unique dual combination of opposing pathologies that has not been reported previously in the literature. 〈 b 〉 〈 i 〉 Case: 〈 /i 〉 〈 /b 〉 A female infant (46,XX) born at 34/40 weeks’ gestation, weighing 2.67 kg (−1.54 standard deviation score) to non-consanguineous parents presented on day 4 of life with significant weight loss. Subsequent investigations revealed hyponatraemia, hypochloraemia, metabolic alkalosis, elevated 17-hydroxyprogesterone, ACTH, and renin. Urine steroid profile suggested HSD3B2 deficiency, which was confirmed by the identification of a homozygous 〈 i 〉 HSD3B2 〈 /i 〉 mutation. Due to the persistence of the hypochloraemic and hypokalemic alkalosis, an underlying renal tubulopathy was suspected. Sequence analysis of a targeted tubulopathy gene panel revealed a homozygous deletion in 〈 i 〉 CLCNKB 〈 /i 〉 , consistent with Bartter syndrome type 3. The mother was found to be heterozygous for both mutations in 〈 i 〉 HSD3B2 〈 /i 〉 and 〈 i 〉 CLCNKB 〈 /i 〉 , and the father was negative for both. Single-nucleotide polymorphism microarray analysis confirmed 2 segments of homozygosity on chromosome 1 of maternal ancestry, encompassing both 〈 i 〉 HSD3B2 〈 /i 〉 and 〈 i 〉 CLCKNB 〈 /i 〉 . 〈 b 〉 〈 i 〉 Discussion: 〈 /i 〉 〈 /b 〉 Identification of a homozygous rare mutation in an offspring of non-consanguineous parents should raise suspicion of uniparental disomy, especially if the phenotype is unusual, potentially encompassing more than one disorder. The persistence of hypokalemic alkalosis, the biochemical fingerprint of hyperaldosteronism in a child with a form of CAH in which aldosterone production is severely impaired, challenges our current understanding of mineralocorticoid-mediated effects in the collecting duct.
Materialart:
Online-Ressource
ISSN:
1663-2818
,
1663-2826
Sprache:
Englisch
Verlag:
S. Karger AG
Publikationsdatum:
2020
ZDB Id:
2540224-9
