Anorchia is a rare medical condition characterized by the complete absence of one or both testes at birth. These male reproductive glands are responsible for producing hormones and sperm.
Understanding Anorchia
Anorchia involves the complete absence of one testis (unilateral anorchia) or both testes (bilateral anorchia). This differs from cryptorchidism, a more common condition where testes are present but have not descended into the scrotum. In anorchia, the testicular tissue is missing, not merely misplaced.
Other male reproductive structures, such as the penis and scrotum, may still be present and appear normal. This can occur if the testes were present during early fetal development before disappearing. The impact on physical development and hormonal balance varies depending on when the testes ceased to function during gestation.
How Anorchia Develops
Anorchia is believed to originate during fetal development, typically between 8 and 10 weeks of gestation, when the testes are forming or beginning their descent. One leading theory is the “vanishing testes syndrome,” where testes initially form but later degenerate or are reabsorbed by the body. This reabsorption can occur due to various factors, including vascular incidents that disrupt blood supply.
The precise cause of anorchia is frequently unknown, often categorized as idiopathic. While vascular issues are suspected, genetic factors may also play a role. The timing of testicular disappearance during fetal development dictates the extent of male differentiation. If the testes vanish before 8 weeks, female genitalia may develop. Later disappearance can result in normal external male genitalia but absent testes.
Diagnosing Anorchia
Diagnosing anorchia begins with a physical examination, noting the absence of palpable testes in the scrotum. This prompts further investigation to confirm the condition and rule out undescended testes. Evaluation also includes hormone testing to assess testicular function.
Basal testosterone levels are measured, and an hCG (human chorionic gonadotropin) stimulation test determines if any testicular tissue is present and capable of producing testosterone. Low testosterone levels that do not rise significantly after hCG stimulation, along with elevated follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, suggest the absence of functional testes. Imaging studies, such as ultrasound or MRI, are then used to visualize the abdominal and inguinal regions to confirm the absence of testicular tissue. In some instances, diagnostic laparoscopy, a minimally invasive surgical procedure, definitively confirms the absence of testes and vas deferens within the abdomen.
Living with Anorchia
Living with anorchia involves medical interventions and supportive care. Hormone replacement therapy (HRT), specifically testosterone replacement, is a primary treatment. It induces puberty and maintains secondary sexual characteristics like muscle mass, voice deepening, and facial hair growth, helping individuals develop and maintain a male phenotype.
For cosmetic purposes, testicular prostheses can be surgically implanted into the scrotum, providing a natural appearance and improving body image and self-esteem. Fertility is a significant consideration for individuals with bilateral anorchia, as they do not produce sperm. Options like sperm donation can be explored for those desiring biological children. Ongoing medical care, including regular hormone level monitoring and psychological support, is also advised to address physical and emotional aspects.