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Penis agenesis

Underdevelopment of the penis, resulting in an abnormally small size in the affected adult male. Micropenis may also occur in combination with other congenital and developmental abnormalities. Mutations in the SRD5A2 gene have been identified in several cases. OMIM: 607306
Also Known As:
Agenesis of the penis; Micropenis; Penis agenesia
Networked: 192 relevant articles (11 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Cryptorchidism (Undescended Testes)
2. Androgen-Insensitivity Syndrome (Testicular Feminization)
3. 46,XY Disorder of Sex Development (Male Pseudohermaphroditism)
4. Intellectual Disability (Idiocy)
5. Epispadias

Experts

1. Hasegawa, Tomonobu: 9 articles (09/2019 - 01/2002)
2. Ogata, Tsutomu: 8 articles (01/2015 - 01/2002)
3. Ishii, Tomohiro: 6 articles (09/2019 - 07/2002)
4. Sasaki, Goro: 5 articles (09/2019 - 07/2002)
5. Sato, Seiji: 5 articles (09/2019 - 07/2002)
6. Young, Jacques: 5 articles (01/2016 - 01/2010)
7. Matsuo, Nobutake: 5 articles (01/2015 - 01/2002)
8. Bouvattier, Claire: 4 articles (06/2016 - 10/2011)
9. Sultan, Charles: 3 articles (01/2021 - 01/2006)
10. Amano, Naoko: 3 articles (09/2019 - 07/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Penis agenesis:
1. AndrogensIBA
2. testosterone undecanoateIBA
3. testosterone enanthate (Delatestryl)FDA LinkGeneric
4. Testosterone (Sustanon)FDA Link
5. Dihydrotestosterone (Androstanolone)IBA
6. Gonadotropin-Releasing Hormone (GnRH)FDA Link
7. GonadotropinsIBA
8. Growth Hormone (Somatotropin)IBA
9. Androgen Receptors (Androgen Receptor)IBA
10. SteroidsIBA
11/01/2023 - "Thus, we investigated hCG-stimulated serum steroid metabolite profiles by liquid chromatography-tandem mass spectrometry (LC-MS/MS) in patient 1 at 7 months of age and in patient 2 at 11 months of age as well as in five control males with idiopathic micropenis aged 1 - 8 years, and found markedly high T/A-dione ratios (12.3 in patient 1 and 5.4 in patient 2) which were, however, obviously lower than those in the control boys (25.3 - 56.1) and sufficiently increased T values comparable to those of control males. "
09/28/2019 - "DHT deficiency leads to various degrees of undervirilized external genitalia including micropenis, primarily correlated with mutations of the SRD5A2 gene that encodes 5α-reductase type 2. Four Japanese boys with isolated micropenis were diagnosed as 5αRD2 by elevated ratios of serum T/DHT, and decreased ratios of urinary 5α/5β-reduced steroid metabolites. "
06/01/2004 - "Controls excluded individuals with cryptorchidism, micropenis, known endocrine defects, or receiving steroid supplementation. "
12/01/2009 - "A 46,XY male with micropenis and two 46,XX female infants with genital ambiguity presented with skeletal malformations, and a 46,XX adolescent presented with primary amenorrhea, elevated 17alpha-hydroxyprogesterone, and low sex steroids. "
01/01/2019 - "We suggest that the serum levels of IGF-I should be monitored in children with poor development of sexual organs, although it remains to be investigated whether GH should be added to sex steroids in the management of hypogonadism for some pubertal children (e.g., boys with micropenis)."

Therapies and Procedures

1. Therapeutics
2. Phalloplasty
3. Cutaneous Administration
4. Injections
5. Conservative Treatment