Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

Journal of Pediatric Endocrinology and Metabolism

Volumn 28, Issue 5-6, 2015, Pages 623-628

  Khattab, Ahmed ^a   Yuen, Tony ^a   Yau, Mabel ^a   Domenice, Sorahia ^b   Frade Costa, Elaine Maria ^b   Diya, Kazmi ^a   Muhuri, Dwaipayan ^a   Pina, Christian Enrique ^a   Nishi, Mirian Yumie ^b   Yang, Amy C ^a   De Mendoncą, Berenice Biharinho ^b   New, Maria I ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

17 HSD3; androstendione; hCG; HSD17B3; testosterone

Indexed keywords

17 BETA HYDROXYSTEROID DEHYDROGENASE III; ANDROGEN RECEPTOR; ANDROSTENEDIONE; CHORIONIC GONADOTROPIN; TESTOSTERONE; TESTOSTERONE 17BETA DEHYDROGENASE; UNCLASSIFIED DRUG; 3 (OR 17)-BETA-HYDROXYSTEROID DEHYDROGENASE; HYDROXYSTEROID DEHYDROGENASE;

17 BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY; ADOLESCENT; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DISORDER OF SEX DEVELOPMENT; ECHOGRAPHY; ENDOCRINE SYSTEM EXAMINATION; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XY; MICROARRAY ANALYSIS; ORCHIECTOMY; PHYSICAL EXAMINATION; REGION OF HOMOZYGOSITY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TANDEM MASS SPECTROMETRY; TESTOSTERONE BLOOD LEVEL; 46, XY DISORDERS OF SEX DEVELOPMENT; AMINO ACID SEQUENCE; CHEMISTRY; DEFICIENCY; GENETICS; GYNECOMASTIA; MALE; MOLECULAR GENETICS; PEDIGREE; SEQUENCE HOMOLOGY; STEROID METABOLISM, INBORN ERRORS;

17-HYDROXYSTEROID DEHYDROGENASES; 46, XY DISORDERS OF SEX DEVELOPMENT; AMINO ACID SEQUENCE; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; GYNECOMASTIA; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE HOMOLOGY, AMINO ACID; STEROID METABOLISM, INBORN ERRORS; TANDEM MASS SPECTROMETRY;

EID: 84928948980     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2014-0295     Document Type: Article

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