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 …

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 …

Consanguinity and disorders of sex development

A Bashamboo, K McElreavey - Human heredity, 2014 - karger.com
Disorders of sex development (DSD) are defined as 'congenital conditions in which the
development of chromosomal, gonadal, or anatomical sex is atypical'[Lee et al., Pediatrics …

Gender identity and coping in female 46, XY adults with androgen biosynthesis deficiency (intersexuality/DSD).

K Schweizer, F Brunner, K Schützmann… - Journal of Counseling …, 2009 - psycnet.apa.org
Individuals living with an intersex condition have not received much attention in counseling
psychology, although a high need for psychosocial care is obvious. Using a mixed-methods …

Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development

M Nie, Q Zhou, J Mao, S Lu, X Wu - Molecular human …, 2011 - academic.oup.com
Individuals with male karyotype (46, XY) affected by 5α-reductase type 2 deficiency, a rare
autosomal recessive inherited disorder, can have an almost female phenotype or partially …

Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 …

A Abacı, G Çatlı, Ö Kırbıyık, NM Şahin, ZY Abalı… - Journal of …, 2019 - Springer
Background Studies regarding genetic and clinical characteristics, gender preference, and
gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are …

Undervirilization in XY newborns may hide a 5α‐reductase deficiency: report of three new SRD5A2 gene mutations

L Maimoun, P Philibert, B Cammas… - … journal of andrology, 2010 - Wiley Online Library
The observation of ambiguous genitalia in the newborn signals a medical, surgical and
psychological emergency. The most crucial decision will be the choice of sex assignment …

Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin

M Fernández‐Cancio, M Nistal, R Gracia… - Journal of …, 2004 - Wiley Online Library
The goal of this study was to perform 5‐α‐reductase type 2 gene (SRD5A2) analysis in a
male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and …

[HTML][HTML] The first successful paternity through in vitro fertilization–intracytoplasmic sperm injection with a man homozygous for the 5α-reductase-2 gene mutation

HJ Kang, J Imperato-McGinley, YS Zhu, LQ Cai… - Fertility and sterility, 2011 - Elsevier
OBJECTIVE: To report a case of successful paternity from a male homozygous for 5α-
reductase-2 deficiency. DESIGN: Case report. SETTING: Academic center, division of …

[PDF][PDF] Psychosexuelle Probleme bei Intersex-Syndromen

O Sexuologie - … von der Akademie für Sexualmedizin und der …, 2005 - sexuologie-info.de
Störungen der somatosexuellen Differenzierung mit am bivalentem, intersexuellem
äußerem Genitale treten bei ca. 1: 3.000 bis 1: 5.000 Neugeborenen auf und konfrontieren …