Male assignment in 5α‐reductase type 2 deficiency with female external genitalia

2021 ◽  
Author(s):  
Ayako Konishi ◽  
Shinobu Ida ◽  
Futoshi Matsui ◽  
Yuri Etani ◽  
Masanobu Kawai
Keyword(s):  
External Genitalia ◽  
Female External Genitalia

scholarly journals Diagnóstico genético de hipospadia pseudovaginal perineoescrotal en paciente adolescente

2020 ◽  
Vol 105 (105(810)) ◽  
pp. 125-127
Author(s):  
A. Pérez-Alija Fernández ◽  
S. García-Muñoz ◽  
I. Puerta-Jiménez ◽  
R. Jiménez-Torres
Keyword(s):  
Family Doctor ◽  
Genetic Research ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Diagnosis Delay ◽  
Her Family ◽  
Primary Amenorrhoea ◽  
Therapeutic Regime ◽  
Female External Genitalia

5-alpha-reductase enzymatic deficit produces a form of pseudohermaphroditism in which a chromosomic male (46XY) shows ambiguous genitalia at birth, hypospadias and masculinization at puberty. We present a clinical case of a teenage patient with female external genitalia and primary amenorrhoea who was derived from her family doctor on suspicion of acromegaly. Hormonal, imaging and genetic research was conducted and it revealed a 5-alpha-reductase type 2, presenting the variant c.271T>G (p.Tyr91Asp) in homozygosity. A diagnosis delay suppossed a lag in appropiate therapeutic regime instauration, thus leading to an excessive androgenization of the patient with the corresponding psychological distress.

TRAUMATIC INJURIES OF THE FEMALE EXTERNAL GENITALIA AND THEIR ASSOCIATION WITH UROLOGICAL INJURIES

1998 ◽  
Vol 159 (3) ◽  
pp. 956-959 ◽  
Author(s):  
HOWARD B. GOLDMAN ◽  
CHARLES B. IDOM ◽  
ROGER R. DMOCHOWSKI
Keyword(s):  
External Genitalia ◽  
Traumatic Injuries ◽  
Urological Injuries ◽  
Female External Genitalia

The use of dermatoscopy to differentiate vestibular papillae, a normal variant of the female external genitalia, from condyloma acuminata

2009 ◽  
Vol 60 (2) ◽  
pp. 353-355 ◽  
Author(s):  
Su-Han Kim ◽  
Sang-Hee Seo ◽  
Hyun-Chang Ko ◽  
Kyung-Sool Kwon ◽  
Moon-Bum Kim
Keyword(s):  
External Genitalia ◽  
Condyloma Acuminata ◽  
Normal Variant ◽  
Female External Genitalia

46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

2021 ◽  
Vol 10 (1) ◽  
pp. 45-47
Author(s):  
Anil Kumar Sah ◽  
Bipin Maharjan ◽  
Mahesh Bahadur Adhikari ◽  
Suman Baral ◽  
Mimi Giri
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Dehydrogenase Deficiency ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Androgen Action ◽  
Disorder Of Sexual Development ◽  
Insufficiency Syndrome ◽  
Atypical Development ◽  
Female External Genitalia

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

Preferences in the Aesthetic Appearance of the Female External Genitalia

Anaplastology ◽  
2016 ◽  
Vol 05 (01) ◽  
Author(s):  
Christopher J Salgado ◽  
Lydia A Fein MPH
Keyword(s):  
External Genitalia ◽  
Aesthetic Appearance ◽  
The Aesthetic ◽  
Female External Genitalia

scholarly journals Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency

2019 ◽  
Vol 2019 ◽  
pp. 1-10 ◽  
Author(s):  
Nanis S. Marzuki ◽  
Firman P. Idris ◽  
Hannie D. Kartapradja ◽  
Alida R. Harahap ◽  
Jose R. L. Batubara
Keyword(s):  
Autosomal Recessive ◽  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Compound Heterozygous ◽  
Phenotypic Characteristics ◽  
Sex Development ◽  
Srd5a2 Gene ◽  
Diagnostic Approaches ◽  
Autosomal Recessive Condition

The 5-alpha-reductase type 2 deficiency (5ARD2) is an autosomal recessive condition associated with impairment in the conversion of testosterone to dihydrotestosterone. This condition leads to undervirilisation in 46,XY individuals. To date, there have been more than 100 variations identified in the gene responsible for 5ARD2 development (steroid 5-alpha-reductase 2, SRD5A2). However, few studies have examined the molecular characterisation of Indonesian 5ARD2 cases. In the current study, we analysed 37 subjects diagnosed with 46,XY DSD (disorders of sex development) with confirmed variations in the SRD5A2 gene. We examined results from testosterone/dihydrotestosterone (T/DHT) and urinary etiocholanolone/androsterone (Et/An) ratios, as well as from molecular and clinical analyses. Twelve variants in the SRD5A2 gene were identified, and 6 of which were novel, namely, c.34–38delGinsCCAGC, p.Arg50His, p.Tyr136∗, p.Gly191Arg, p.Phe194Ile, and p.Ile253Val variants. Moreover, we determined that 20 individuals contained harmful mutations, while the remaining 17 variants were benign. Those containing harmful mutations exhibited more severe phenotypes with median external genitalia masculinisation scores (EMS) of 3 (1.5–9) and were more likely to be diagnosed at a later age, reared as female, and virilised at pubertal age. In addition, the respective sensitivities for detecting severe 5ARD2 cases using T/DHT (cutoff: 10) and urinary Et/An ratios (cutoff: 0.95) were 85% and 90%, whereas mild cases were only identified with 64.7% and 47.1% sensitivity, respectively. Although we were unable to identify clear correlations between genotypic and phenotypic characteristics in this study, we clearly showed that individuals who were homozygous or compound heterozygous for any of the harmful mutations were more likely to exhibit classic 5ARD2 phenotypes, lower EMS, female assignment at birth, and virilisation during puberty. These results serve to inform the development of improved clinical and molecular 5ARD2 diagnostic approaches, specifically in Indonesian patients.

scholarly journals Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases*

2000 ◽  
Vol 85 (9) ◽  
pp. 3094-3100 ◽  
Author(s):  
Koji Muroya ◽  
Torayuki Okuyama ◽  
Keiji Goishi ◽  
Yoshifumi Ogiso ◽  
Shin Fukuda ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
External Genitalia ◽  
Chromosome 9 ◽  
Severe Malnutrition ◽  
Female Case ◽  
Dm Domain ◽  
Baseline Values ◽  
Male External Genitalia ◽  
Female External Genitalia

Abstract We report on clinical and molecular findings in five karyotypic males (cases 1–5) and one karyotypic female (case 6) with distal 9p monosomy. Cases 1–3 and 6 had female external genitalia, case 4 showed ambiguous external genitalia, and case 5 exhibited male external genitalia with left cryptorchidism and right intrascrotal testis. Gonadal explorations at gonadectomy in cases 3 and 4 revealed that case 3 had left streak gonad and right agonadism, and case 4 had bilateral hypoplastic testes. Endocrine studies in cases 1–4 and 6 showed that cases 1, 3, and 6 had definite primary hypogonadism, with basal FSH levels of 54, 39, and 41 IU/L, respectively, whereas case 2 with severe malnutrition was unremarkable for the baseline values, and case 4 had fairly good testicular function. Fluorescence in situ hybridization and microsatellite analyses demonstrated that all cases had hemizygosity of the 9p sex-determining region distal to D9S1779, with loss of the candidate sex-determining genes DMRT1 and DMRT2 from the abnormal chromosome 9. Sequence analysis in cases 1–4 and 6 showed that they had normal sequences of each exon of DMRT1 and the DM domain of DMRT2 on the normal chromosome 9, and that cases 1–4 had normal SRY sequence. The results provide further support for the presence of a sex-determining gene(s) on distal 9p and favor the possibility of DMRT1 and/or DMRT2 being the sex-determining gene(s). Furthermore, as hemizygosity of the 9p sex-determining region was associated with a wide spectrum of gonadogenesis from agonadism to testis formation in karyotypic males and with primary hypogonadism regardless of karyotypic sex, it is inferred that haploinsufficiency of the 9p sex-determining gene(s) primarily hinders the formation of indifferent gonad, leading to various degrees of defective testis formation in karyotypic males and impaired ovary formation in karyotypic females.

Sign in / Sign up

Export Citation Format

Share Document