Anorchism - Symptoms, Treatment, Forms, Stages, Diagnosis

2024 Author: Rachel Wainwright | [email protected]. Last modified: 2023-12-15 07:39

Anarchism

The content of the article:

1. Causes and risk factors
2. Symptoms
3. Diagnostics
4. Treatment
5. Possible complications and consequences
6. Forecast

Anorchism is a congenital complete absence of both testes (testicles). The appendages of the testes, the vas deferens and the prostate gland are also absent or severely hypoplastic.

With this pathology, newborn boys often have significant deformation of the genitals. However, a typically male phenotype can also be noted: the genitals are of normal configuration and location, but the testicles in the scrotum are not determined (which is often misdiagnosed as a sign of bilateral abdominal cryptorchidism).

With anorchism, there is a complete absence of testicles in boys

The incidence of the disease is low: it is diagnosed in approximately 1 newborn in 20,000 cases.

Synonyms: disappeared testicular syndrome, gonadal agenesis, anorchia, intrauterine anorchism.

Causes and risk factors

Presumably, the cause of the disease is a mutation of the testis-stimulating factor gene in the short arm of the Y chromosome. The termination of the production of the named factor leads to regression and the disappearance of the testes, which occurs after the male phenotype is formed in the fetus, that is, 70 or more days after conception.

The onset of anorchism is also possible in the early stages of intrauterine development (no later than the 10th week) due to unspecified chromosomal aberrations. In this case, the genitals are underdeveloped.

Risk factors for fetal chromosomal mutation:

• hormonal disorders;
• autoaggression (the production of antibodies by the immune system to the cells of its own organs);
• the mother's use of prohibited substances;
• mother's use of alcohol, smoking during pregnancy;
• exposure to toxic agents (acridine dyes, alkylating agents, organic solvents, pesticides, petroleum products, benzene, biopolymers, etc.);
• exposure to ionizing radiation;
• adverse environmental conditions;
• transferred viral infections in early pregnancy (measles, rubella, flu).

Symptoms

Depending on the period of intrauterine development at which organogenesis failed, the manifestations of the disease at birth can vary:

• underdeveloped genitals, atrophic, poorly expressed scrotum, up to complete absence ("smooth perineum"), or normal size and location of the penis and scrotum;
• absence of both testes.

Until adolescence (13-14 years old), boys with anorchism do not outwardly differ from their peers (with the exception of the structural features of the genitals). Upon reaching the period of puberty, characteristic features appear due to the underdevelopment of the testes and, as a result, to the lack of male hormones:

• eunuchoid physique (tall, long limbs, narrow shoulders, a relatively wide pelvis, flat narrow chest, stoop, fat deposits on the abdomen, chest, thighs);
• smooth, clean face;
• no voice mutation;
• lack of enlargement of the thyroid cartilage (Adam's apple);
• scanty hair on the face and body;
• muscle hypotension;
• low tolerance to stress;
• increased fatigue;
• lability of blood pressure;
• lack of erection or severe erectile dysfunction;
• decreased libido;
• infertility.

Eunuchoid physique

Patients often have difficulty communicating with peers of the opposite sex. There is a compensatory withdrawal to study, work, and limited social contacts. Depressive states, isolation, a sense of their own inferiority are often noted.

Diagnostics

As part of the diagnosis of anorchism, they carry out:

• objective examination (a characteristic anomaly of the genitals, features of the patient's appearance are revealed);
• determination of anti-Müllerian blood hormone (AMH, AMH, anti-Mullerian hormone, normal values in the reproductive period - 1.30-14.80 ng / ml, in the prepubertal period - 3.80-159.80 ng / ml, there is a decrease);
• densitometry (determination of bone density, a decrease is established);
• analysis for follicle-stimulating blood hormone (FSH, the norm is 0.95-11.95 mIU / ml, an increase is detected);
• analysis for blood luteinizing hormone (LH, the norm is 1.14-8.75 mIU / ml, there is an increase);
• blood testosterone test (normal values in the reproductive period are 8.9–42 nmol / l, in the prepubertal period - 0.8–27.53 nmol / l, a decrease is detected);
• Ultrasound examination for differential diagnosis with bilateral abdominal cryptorchidism;
• magnetic resonance imaging for differential diagnosis with bilateral abdominal cryptorchidism;
• diagnostic surgical intervention.

Treatment

There is an opinion about the advisability of raising a child from an early age according to the female type and estrogen therapy with significant deformation of the genitals (with severe underdevelopment or absence of the penis, in the absence of a scrotum, with a "smooth perineum"). Psychological support of children with this pathology is recommended.

Prosthetics of the testes allows you to eliminate a cosmetic defect in anorchism

Since the testes are responsible for the production of male sex hormones and, consequently, for the normal development of secondary sex characteristics, hormone replacement therapy with androgens is necessary for anorchism with preserved genitals and male gender orientation.

With the ineffectiveness of hormone therapy, it is possible to perform an operation to transplant the testes on the arteriovenous pedicle.

In order to eliminate a cosmetic defect, testicular prosthetics are widely used.

Possible complications and consequences

The main complication of anorchism is psychological trauma in case of incorrect patient management or rejection of the painful condition by family members.

There are no pathologies from other internal organs with anorchism.

Forecast

The prognosis is favorable with timely treatment and adequate psychological support.

Olesya Smolnyakova Therapy, clinical pharmacology and pharmacotherapy About the author

Education: higher, 2004 (GOU VPO "Kursk State Medical University"), specialty "General Medicine", qualification "Doctor". 2008-2012 - Postgraduate student of the Department of Clinical Pharmacology, KSMU, Candidate of Medical Sciences (2013, specialty "Pharmacology, Clinical Pharmacology"). 2014-2015 - professional retraining, specialty "Management in education", FSBEI HPE "KSU".

The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!