Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey.
J Endocrinol Invest
; 42(4): 453-470, 2019 Apr.
Article
em En
| MEDLINE
| ID: mdl-30132287
ABSTRACT
BACKGROUND:
Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are limited and they were conducted on small number of patients.OBJECTIVE:
To present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5α-RD2. MATERIALS ANDMETHODS:
Patients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated.RESULTS:
A total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were ≥ 8.5 for minipuberty, ≥ 10 for prepuberty, and ≥ 17 for puberty.CONCLUSION:
There is no significant genotype-phenotype correlation in 5α-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
/
Di-Hidrotestosterona
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Testosterona
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3-Oxo-5-alfa-Esteroide 4-Desidrogenase
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Neoplasias dos Genitais Femininos
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Neoplasias dos Genitais Masculinos
Tipo de estudo:
Etiology_studies
/
Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Aspecto:
Determinantes_sociais_saude
/
Patient_preference
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
/
Male
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Endocrinol Invest
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Turquia