Endocrine disease of the gonads

Clinical manifestations of testicular function disorders and their examination
Laboratory examination: basic determination of hormones – testosterone, FSH, LH, prolactin, estadiol, free testosterone, dihydrotestosterone, SHBC, hCG.
 * Manifestations in prepubertal androgen deficits: lack of development of secondary sexual characteristics, development of eunuchoid skeletal proportions, penis and testes remain small, typical scrotal folds do not develop, remain higher the position of the voice, the muscles do not develop fully, potency disorder and infertility.
 * Manifestations in post-pubertal androgen deficits: decrease in libido, potency and infertility, slows down beard growth, development of osteopenia and osteoporosis.

Dynamic tests :
 * Stimulation test with hCG – administered 3 days in a row after 3000 i.i.m. → stimulation of synthesis and secretion of steroids by Leydig cells → with a two-fold increase in plasma testosterone is a normal response.
 * Test with GnRH - 0.1 mg of GnRH is administered i.v. → 2–5× rise in LH and double rise in FSH.

Bilateral Anarchy
therapy:
 * occurs in approximately 1 in 20,000 men,
 * death of the testicles during fetal development,
 * ↓ testosterone level, ↑ gonadotropin.
 * long-term androgen substitution,
 * implantation of testicular prostheses.

Cryptorchidism
complication: therapy - as early as possible:
 * testicular dystopia' (retention of the testes in the descent path, 77%) with ectopia (outside the normal descent path, 23%);
 * torsion,
 * trauma,
 * the development of a malignant tumor of the testicle (about 20-30x higher incidence than in healthy men) - untreated can be the cause of infertility;
 * hormonal – intramuscular human chorionic gonadotropin (hCG), or intranasal treatment with gonadotropin hormone (GnRH),
 * surgical - recommended between 12.-18. month of age.

Klinefelter syndrome (47,XXY)
symptoms: therapy:
 * the most common cause of male hypogonadism,
 * the classic karyotype is 47,XXY, but there are other variants 48,XXXY, 49,XXXXY, 48,XXYY, possibly mosaic 47,XXY/46,XY;
 * manifestation usually during puberty,
 * eunuchoid habitus,
 * development of gynecomastia in puberty,
 * small testicles with azoospermia, infertility, decreased libido,
 * sparse pubic and axillary hair,
 * long-term → development of osteopenia,
 * 20 times higher incidence of breast cancer compared to healthy men;
 * androgen substitution: most recently – transdermal patches,
 * infertility treatment within assisted reproduction methods.

Failure of seminiferous tubule function in adulthood
etiology: symptoms: diagnosis: therapy:
 * inflammation as complications of mumps, gonococcal, irradiation, uremia, alcoholism, narcotics, paraplegia, lead poisoning, chemotherapy, varicocele;
 * idiopathic
 * infertility,
 * in case of severe damage up to testicular atrophy with androgen deficiency;
 * oligospermia to azoospermia,
 * hormones usually normal,
 * removing the cause,
 * in hypogonadism, androgen replacement therapy.

Decline of Leydig cell function in adulthood and old age – climacterium virile

 * gradual decline in gonadal function' during aging → decrease in libido, potency, emotional lability.

Hypogonadotropic hypogonadism
symptoms: depends on whether it develops pre- or postpuberty, diagnosis: therapy:
 * is caused by a disorder in the secretion of gonadotropins both at the level of the pituitary gland and in the hypothalamus or higher centers of the brain,
 * 'isolated deficiency of the luteotropic hormone LH (Pasqualini syndrome, fertile eunuchoidism) - secretion of LH and testosterone is affected,
 * part of a disorder of the secretion of multiple pituitary hormones,
 * ↓ LH, ↓ FSH (follicle-stimulating hormone),
 * with GnRH stimulation in the case of a hypothalamic lesion, there will be ↑ LH and FSH (in contrast to a pituitary lesion),
 * application of FSH, LH,
 * in hypothalamic disorders of GnRH application.

Hyperprolactinemia
symptoms: diagnosis: therapy:
 * is the cause of infertility in about 4% of infertile men,
 * loss of libido and potency,
 * reduced ejaculate volume, oligospermia,
 * rarely gynecomastia, galactorrhea,
 * ↑ prolactin, ↓ testosterone,
 * LH and FSH reduced or within the norm,
 * dopamineergic agonists,
 * possibly substitution of androgens or gonadotropins (to achieve fertility).

Disorders of the effect of androgens

 * can be at any stage of androgen action on target tissues → lead to male pseudohermaphroditism.