Pseudovaginal Perineoscrotal Hypospadias

Also Known As:

5-Alpha Reductase Deficiency; Familial Incomplete Male Pseudohermaphroditism, Type 2; Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency; Steroid 5-Alpha-Reductase Deficiency

Networked: 17 relevant articles (2 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Urogenital Diseases: 126
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Urogenital Abnormalities: 76
    - Hypospadias: 1765
      - Pseudovaginal Perineoscrotal Hypospadias: 17
    - Disorders of Sex Development: 730
      - 46,XY Disorder of Sex Development: 472
        Pseudovaginal Perineoscrotal Hypospadias: 17
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Pseudovaginal Perineoscrotal Hypospadias: 17
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Oxidoreductases Acting on CH-CH Group Donors
      - 3-Oxo-5-alpha-Steroid 4-Dehydrogenase: 66
        Pseudovaginal Perineoscrotal Hypospadias: 17
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Pseudovaginal Perineoscrotal Hypospadias: 17
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Disorders of Sex Development: 730
    - 46,XY Disorder of Sex Development: 472
      - Pseudovaginal Perineoscrotal Hypospadias: 17

Related Diseases

1.	Androgen-Insensitivity Syndrome (Testicular Feminization)
2.	46,XY Disorder of Sex Development (Male Pseudohermaphroditism)
3.	Ovotesticular Disorders of Sex Development
4.	Klinefelter Syndrome (Klinefelter's Syndrome)
5.	Gonadal Dysgenesis (Gonadal Agenesis)

Experts

1.	Ajdi, Farida: 1 article (01/2020)
2.	Aziouaz, Fatima: 1 article (01/2020)
3.	Matali, Suzanne: 1 article (01/2020)
4.	Mbamognoua, Nestor Ghislain Andzouana: 1 article (01/2020)
5.	Ouahabi, Hanane El: 1 article (01/2020)
6.	Ain, Qural Ul: 1 article (08/2019)
7.	Asif, Naveed: 1 article (08/2019)
8.	Ejaz, Aamir: 1 article (08/2019)
9.	Haroon, Zujaja Hina: 1 article (08/2019)
10.	Shehzad, Noreen: 1 article (08/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pseudovaginal Perineoscrotal Hypospadias:

1.	Dihydrotestosterone (Androstanolone)IBA 05/10/1975 - "Fibroblasts grown from the foreskin of two patients with familial incomplete male pseudohermaphroditism, type 2, an autosomal recessive disorder of phenotypic sexual differentiation, showed a marked deficiency in the capacity to form dihydrotestosterone. " 10/31/1974 - "Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias." 01/01/2020 - "Testosterone enanthate does not give good results in patients with 5-alpha reductase deficiency; dihydrotestosterone (DHT) has proven effectiveness in these cases. " 08/01/2005 - "Basal and stimulated levels of serum testosterone (T), dihydrotestosterone (DHT), and T/DHT ratio indicated 5-alpha reductase deficiency. " 05/01/1976 - "High affinity binding was normal in cells from two patients with familial incomplete male pseudohermaphroditism, type 2, an autosomal recessive defect in which dihydrotestosterone formation is deficient, and in cells from a patient with male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency, an autosomal recessive defect of testosterone synthesis. "
2.	Testosterone (Sustanon)FDA Link 01/01/2019 - "Individuals with 46XY DSD, specifically those with 5-alpha reductase deficiency, type 2 and androgen insensitivity syndrome testosterone levels that were within normal male range. " 10/01/2023 - "Testosterone replacement, commonly used for Klinefelter syndrome, androgen insensitivity syndrome, 5-alpha reductase deficiency, gonadal dysgenesis, or ovotesticular DSD, may cause acne." 08/01/2005 - "Basal and stimulated levels of serum testosterone (T), dihydrotestosterone (DHT), and T/DHT ratio indicated 5-alpha reductase deficiency. " 05/01/1976 - "High affinity binding was normal in cells from two patients with familial incomplete male pseudohermaphroditism, type 2, an autosomal recessive defect in which dihydrotestosterone formation is deficient, and in cells from a patient with male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency, an autosomal recessive defect of testosterone synthesis. " 08/01/2019 - "To determine diagnostic accuracy of human chorionic gonadotropins stimulation test in differentiating androgen insensitivity syndrome and 5-alpha reductase deficiency, keeping testosterone to dihydrotestosterone ratio as the gold standard. "
3.	GonadotropinsIBA 08/01/2019 - "To determine diagnostic accuracy of human chorionic gonadotropins stimulation test in differentiating androgen insensitivity syndrome and 5-alpha reductase deficiency, keeping testosterone to dihydrotestosterone ratio as the gold standard. " 08/01/2019 - "The human chorionic gonadotropins stimulation test was found to be comparable to testosterone-to dihydrotestosterone ratio in differentiating between case of androgen insensitivity syndrome and 5-alpha reductase deficiency."
4.	testosterone enanthate (Delatestryl)FDA LinkGeneric 01/01/2020 - "Testosterone enanthate does not give good results in patients with 5-alpha reductase deficiency; dihydrotestosterone (DHT) has proven effectiveness in these cases. "
5.	SteroidsIBA 06/01/1980 - "Defects in either the production or the action of androgenic steroids have been demonstrated to cause pseudovaginal perineoscrotal hypospadias, a syndrome of male hermaphoditism. " 08/01/1986 - "Thus, this study identified a second community with inherited male pseudohermaphroditism due to 5-alpha-reductase deficiency, confirming the autosomal recessive inheritance of this condition and the generalized abnormality in both C19 and C21 steroid 5-alpha metabolism." 08/01/2005 - "To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family. " 01/01/2023 - "Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by genetic variants that reduce the activity of the enzyme that converts testosterone into dihydrotestosterone. "
6.	compound 21IBA 08/01/1986 - "Thus, this study identified a second community with inherited male pseudohermaphroditism due to 5-alpha-reductase deficiency, confirming the autosomal recessive inheritance of this condition and the generalized abnormality in both C19 and C21 steroid 5-alpha metabolism."
7.	Oxidoreductases (Dehydrogenase)IBA 08/01/2005 - "To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family. " 12/01/2014 - "The discovery of 5-alpha reductase deficiency has not only shed light on the crucial role of 5-alpha reductase, testosterone, and dihydrotestosterone in male sexual differentiation but it also has facilitated the discovery of novel therapeutic applications of 5-alpha reductase inhibitors in clinical practice."
8.	EnzymesIBA 12/01/2014 - "Discovery of 5-alpha reductase deficiency as a syndrome of disordered male sexual development led to our molecular understanding of the role that this key enzyme plays in male sexual differentiation. " 01/01/2023 - "Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by genetic variants that reduce the activity of the enzyme that converts testosterone into dihydrotestosterone. "
9.	DNA (Deoxyribonucleic Acid)IBA 07/01/1994 - "[The importance of DNA analysis in the diagnosis of steroid 5-alpha-reductase deficiency]." 06/01/1990 - "A patient having a small phallus and pseudovaginal, perineoscrotal hypospadias (PPSH) also had normal Y chromosomal DNA. "
10.	5-alpha Reductase InhibitorsIBA 12/01/2014 - "The discovery of 5-alpha reductase deficiency has not only shed light on the crucial role of 5-alpha reductase, testosterone, and dihydrotestosterone in male sexual differentiation but it also has facilitated the discovery of novel therapeutic applications of 5-alpha reductase inhibitors in clinical practice."

Therapies and Procedures

1.	Castration 06/01/1976 - "Incomplete forms of the syndrome (ITFS) include Type I n which some degree of masculinization may be observed, prompting earlier gonadectomy, and Type II or pseudovaginal perineoscrotal hypospadias (PPSH) which is always characterized by pubertal masculinization, necessitating management and support of these patients as males. "