17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency: Diagnosis, Phenotypic Variability and Molecular Findings

Faienza, Maria Felicia

doi:10.5772/27190

Cited by 5 publications

(2 citation statements)

References 76 publications

(126 reference statements)

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“…In cases of HSD17B3 de ciency, a testosterone/androstenedione ratio lower than 0.8 has shown a 100% diagnosis sensitivity in children up to six months old, illustrating the importance of early diagnosis. In any case, the molecular analysis of sex-related developmental genes is a critical tool not only for diagnostic purposes but also for genetic counseling [6,[9][10][11].…”

Section: Clinical Issues That Impact On the Familymentioning

confidence: 99%

“…On the other hand, individuals presenting minor genital changes and reared as girls may not be diagnosed until adolescence or adulthood. At this stage, primary amenorrhea and virilization of external genitalia may arise due to peripheral testosterone conversion [6,[9][10][11]. At any stage of life, this is a stressful situation that should be addressed carefully by an experienced multidisciplinary team in a patient-centered manner.…”

Section: Introductionmentioning

confidence: 99%

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So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

Filho

Petroli

Soardi

et al. 2021

Preprint

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The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the HSD17B3 gene. In this disorder/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female. We report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10 months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G > T was found in exon 10 of the HSD17B3 gene. Researchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families’ pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.

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Section: Clinical Issues That Impact On the Familymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%