Steroid 5α-reductase 2 deficiency

BB Mendonca, RL Batista, S Domenice… - The Journal of steroid …, 2016 - Elsevier
Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of
5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46, XY sex …

Clinical biochemistry of dihydrotestosterone

PM Marchetti, JH Barth - Annals of Clinical Biochemistry, 2013 - journals.sagepub.com
Dihydrotestosterone (DHT) is the most potent natural androgen in humans. There has been
an increasing interest in this androgen and its role in the development of primary and …

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients

L Maimoun, P Philibert, B Cammas… - The Journal of …, 2011 - academic.oup.com
abstract Context: In 46, XY disorders of sex development, 5α-reductase deficiency is rare
and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to …

[HTML][HTML] 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review

A Avendaño, I Paradisi, F Cammarata-Scalisi, M Callea - Hormones, 2018 - Springer
α-Reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, a potent androgen responsible for male sexual development during the …

Integrative and analytical review of the 5-alpha-reductase type 2 deficiency worldwide

RL Batista, BB Mendonca - The Application of Clinical Genetics, 2020 - Taylor & Francis
Introduction The conversion of testosterone into dihydrotestosterone is catalyzed by the 5α-
reductase type 2 enzyme which plays a crucial role in the external genitalia virilization. It is …

Human chorionic gonadotropin test: old uncertainties, new perspectives, and value in 46, XY disorders of sex development

S Bertelloni, G Russo, GI Baroncelli - Sexual Development, 2018 - karger.com
The human chorionic gonadotropin (hCG) test represents a key step in assessing Leydig
cell function in prepubertal males, but differences in terms of hCG doses, number of …

DSD due to 5α-reductase 2 deficiency-from diagnosis to long term outcome

EMF Costa, S Domenice, MH Sircili… - Seminars in …, 2012 - thieme-connect.com
Most of the patients with 5α-RD 2 deficiency are reared in the female social sex due to their
severely undervirilized external genitalia but~ 60% who have not been submitted to …

Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?

AOK Chan, BWM But, CY Lee, YY Lam, KL Ng… - Clinical …, 2013 - academic.oup.com
BACKGROUND 5α-Reductase 2 deficiency (5ARD) is a known cause of 46, XY disorders of
sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) …

408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing

GB De Paula, BA Barros, S Carpini… - International journal …, 2016 - Wiley Online Library
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with
disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective …

The molecular basis of 5α-reductase type 2 deficiency

RL Batista, BB Mendonca - Sexual Development, 2022 - karger.com
The 5α-reductase type 2 enzyme catalyzes the conversion of testosterone into
dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by …