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Aphallia

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Aphallia
Other namesPenile agenesis (in males) Clitoral agenesis (in females)
Medical specialtyMedical genetics, urology
SymptomsNatural lack of penis or clitoris
Usual onsetPrenatal
Frequency1 in 10,000,000 to 30,000,000

Aphallia is a very rare intersex genetic disorder where someone is born without a phallus (penis or clitoris). In males, this is called penile agenesis and in females, this is called clitoral agenesis. Around 100 cases of it have been found. It is estimated to affect 1 in 10,000,000 to 30,000,000 people.

Symptoms[change]

People with aphallia are born without the phallus. In males, this is the penis and in females, this is the clitoris.[1] Males with aphallia usually still have a normal scrotum and testes. Sometimes, the testes may be undescended, meaning they are in the lower abdomen instead of outside the body.[2] Sometimes, this condition can affect the way someone urinates (pees). Males with aphallia may have their urethra be in the anus. This means they urinate from the rectum.[3] Usually, people with aphallia are still fertile (can have kids), but they may need medical operations done on them so they can do so.[4]

People with aphallia may have issues with their kidneys or bladder.[1] Urinary track infection and sepsis may be common in babies.[5]

Causes[change]

The cause of aphallia is not fully known. It is believed to be caused by issues with hormones and chromosomes when a fetus forms.[3]

Treatment[change]

The treatment for aphallia varies. Sometimes, babies with it will get a vesicostomy. This is a surgery that will make a hole on the body so urine can come out of the body.[6] Sometimes, a phalloplasty will be done. This is a surgery that will give someone a penis.[3]

Doctors debate on what gender males with aphallia should be raised as. Usually, they will be raised as male. Sometimes, someone with aphallia will be raised as a female instead. This is controversial.[5]

Prevalence[change]

Only about 100 cases of aphallia have been found. It is estimated that 1 in 10,000,000 to 30,000,000 people have aphallia.[2]

References[change]

  1. 1.0 1.1 Friedman, Ariella A.; Zelkovic, Paul F.; Reda, Edward F.; Franco, Israel; Palmer, Lane S. (2016). "Male and female aphallia associated with severe urinary tract dysplasia". Journal of Pediatric Urology. 12 (4): 268.e1–7. doi:10.1016/j.jpurol.2016.04.040. ISSN 1873-4898. PMID 27522318.
  2. 2.0 2.1 Venkatesh, Satish Kumar Kolar; Babu, P. R.; Joseph, T. P.; Varma, Karthikeya K. (2017). "Male Gender Assignment of a Child with Aphallia and Associated Complex Urological Anomaly". Journal of Indian Association of Pediatric Surgeons. 22 (1): 38. ISSN 0971-9261.
  3. 3.0 3.1 3.2 Qiang, Shuai; Li, Feng Yong; Zhou, Yu; Yuan, Ye; Li, Qiang (2019). "Congenital absence of the penis (aphallia): A rare case report". Medicine. 98 (15): e15129. doi:10.1097/MD.0000000000015129. ISSN 1536-5964. PMC 6485865. PMID 30985678.
  4. Sisca, Eni Maria; Pakpahan, Cennikon; Rezano, Andri; Margiana, Ria; Agustinus, Agustinus; Tanojo, Tjahjo Djojo (2022). "Adult Patients with Aphallia: Were they Fertile?". OnLine Journal of Biological Sciences. 22 (2): 214–222. doi:10.3844/ojbsci.2022.214.222. ISSN 1608-4217.
  5. 5.0 5.1 Yuri, Prahara; Yunir, Peri Eriad; Utama, Eldo Taufila Putra; Zulfiqar, Yevri; Thobari, Jarir At (2024-03-28). "Aphallia - congenital absence of the penis: a systematic review". BMC Urology. 24 (1): 75. ISSN 1471-2490. PMC 10976806. PMID 38549119.
  6. Bahe, Priya; Sharma, Deepak; Bahe, Anupam; Pandita, Aakash (2016). "An infant with aphallia and its associated complication: A rare case report and review of literature". Tropical Doctor. 46 (1): 51–53. doi:10.1177/0049475515576675. ISSN 1758-1133. PMID 25786436.