Phenotypic and molecular characteristics in eleven <scp>C</scp>hinese patients with 5α‐reductase <scp>T</scp>ype 2 deficiency

Zhu, Hui; Liu, Wei; Han, Bing; Fan, Mengxia; Zhao, Shuang‐Xia; Wang, Haining; Lu, Yingli; Pan, Chun-Ming; Chen, Fuguo; Chen, Ming-Dao; Song, Hwangjun; Cheng, Kaixiang; Qiao, Jie

doi:10.1111/cen.12456

Cited by 33 publications

(47 citation statements)

References 45 publications

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“…It is known that in humans some of the SRY gene mutations are responsible for gonadal dysgenesis (Helszer et al, 2013), mutations in the human AR and SRD5A2 genes are responsible for the androgen insensitivity syndrome, with different levels of severity (Gottlieb et al, 2012;Zhu et al, 2014), while MAMLD1 mutations appeared to be causative in some cases of human hypospadias (Kalfa et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive)

Nowacka‐Woszuk

Szczerbal

Salamon

et al. 2014

Animal Reproduction Science

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Section: Discussionmentioning

confidence: 99%

Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive)

Nowacka‐Woszuk

Szczerbal

Salamon

et al. 2014

Animal Reproduction Science

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“…Basal T/DHT ratio showed high sensitivity in adults ( Table 5 ), providing that an adequate cut-off value is used. According to the data summarized in Data are collected from individual published values in patients with proven SRD5A2 mutations [Saenger et al, 1978;Odame et al, 1992;Hiort et al, 1996;Sinneker et al, 1996;Canto et al, 1997;Can et al, 1998;Nordenskjöld and Ivarsson, 1998;Ocal et al, 2002;Fernández-Ciancio et al, 2004;Bahceci et al, 2005;Hackel et al, 2005;Skordis et al, 2005;Kim et al, 2006;Baldinotti et al, 2008;Vilchis et al, 2008;Zhu et al, 2014;Bertelloni et al, 2016].…”

Section: Hcg Test: Use In the Diagnostic Workup Of 46xy Dsdmentioning

confidence: 99%

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

Bertelloni

Russo

Baroncelli

2017

Sex Dev

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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 injections, and sequence of blood drawing are published in the literature, showing poor standardization. The few available data in healthy boys are summarized here. A recombinant hCG (rhCG) formulation might permit overcoming some controversies as well as avoid the potential biological risk related to the injection of extractive hormones. Studies in humans are scarce, but they indicate that 250 µg rhCG in a single dose may represent a useful scheme for the dynamic evaluation of Leydig cell function in children as well as in adults. The main indication for hCG testing in childhood is the investigation of 46,XY disorders of sex differentiation. The test must also be considered in order to investigate the presence of functional testicular tissue when gonadal peptide hormones cannot be measured.

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“…It has been reported that most of the patients with 5α-RD2 are typically first assigned a female gender, and due to the significant masculinization, psychosexual orientation and cultural biases, a number of these patients may switch to male gender during puberty [18,19]. Our aforementioned immunohistochemical results suggested that gonadectomy should be performed when the female gender is chosen, and early testis descent is necessary when the male gender is assigned, as delayed treatment would have maintained the testes in a tumorigenic condition.…”

Section: Discussionmentioning

confidence: 99%

“…Spontaneous virilization usually emerges at puberty [27,34]. The detailed data of related patients were summarized in Table 3 [19,[27][28][29][35][36][37].…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in <i>SRD5A2</i> gene

et al. 2018

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Abstract. Early diagnosis and optimal management for steroid 5α-reductase type 2 deficiency (5α-RD2) patients are major challenges for clinicians and mutation analysis for the 5α-reductase type 2 (SRD5A2) gene is the golden standard for the diagnosis of the disease. In silico analysis of this enzyme has not been reported due to the lack of appropriate model. Moreover, the histological and pathological changes of the gonads are largely unknown. In the present study, a 5α-RD2 patient born with abnormal external genitalia was studied and mutation analysis for SRD5A2 gene was conducted. Moreover, we constructed the homology modeling of 5α-reductase using SWISS-MODEL, followed by the molecular docking study. Furthermore, immunohistochemical staining of Ki67 for the testes tissue was conducted to investigate the potential pathological characteristics. The patient had male (46, XY) chromosomes but presented female characteristics, and the mutation analysis identified a heterozygotes mutation (p.Q6X, p.R246Q) in SRD5A2 gene. In silico analysis elucidated the potential effect of the mutation on enzyme activity. Immunohistochemical staining for the excised testes showed that 30%-50% of the germ cells were Ki67 positive, which indicated the early neoplastic potential. In conclusion, we analyzed the genotype-phenotype correlations of 5α-RD2 caused by a heterozygotes mutation (p.Q6X, p.R246Q). Importantly, we conducted the homology modeling and molecular docking for the first time, which provided a homology model for further investigations. Immunohistochemical results suggested gonadectomy or testis descent should be performed early for 5α-RD2 patient, as delayed treatment would have maintained the testes in a tumorigenic condition.

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Phenotypic and molecular characteristics in eleven Chinese patients with 5α‐reductase Type 2 deficiency

Abstract: This cohort study describes the phenotypic, biochemical and long-term outcome in 11 Chinese patients with 5α-RD2 deficiency and defines the genotypic spectrum of SRD5A2 mutations in China.

Cited by 33 publications

References 45 publications

Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive)

Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive)

Human Chorionic Gonadotropin Test: Old Uncertainties, New Perspectives, and Value in 46,XY Disorders of Sex Development

Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in <i>SRD5A2</i> gene

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