Gonadal dysgenesis Q55.8

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 29.10.2020

Definition
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Lack of functional germ cells. Chromosomal aberration (XO) with female phenotype, intersexual genotype and male nuclear sex (chromatin negative).

Clinical features
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A distinction is made:

Pure gonadal dysgenesis: Swyer syndrome.
Gonadal dysgenesia with short stature: Rössle syndrome.
Gonadal dysgenesis with malformations: Bonnevie-Ullrich syndrome.
Gonadal dysgenesia with malformations: Turner syndrome.

Klinefelter's syndrome.

Therapy
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In the absence of pubertal development hormone substitution, see Tables 1 and 2. After completion of this initial phase of rapid androgenisation, gonadal function is stimulated with the aid of GnRH or gonadotropins until mature germ cells are formed (see Table 3). This procedure applies both to patients with current and later desire for children, since the spermatogenesis initiated once can be restimulated more quickly by renewed GnRH or gonadotropin therapy. The therapy is carried out until sperm appears in the ejaculate or until pregnancy occurs. The fertility prognosis is favourable. Often, sperm formation can be successfully induced. GnRH or gonadotropin therapy of two and more years. Once spermiogenesis has fully matured or pregnancy has been achieved, testosterone therapy (required for life to maintain secondary sexual characteristics and androgen-dependent functions, including the prevention of osteoporosis) is switched back to, as it is considerably cheaper and is sufficient to compensate for the androgen deficit. If the desire to have children again, a new GnRH or gonadotropin therapy is carried out.

Tables
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Testosterone substitution in gonadal dysgenesis

Application	Example preparations	Dosage
Intramuscular	Testoviron Depot 250 mg	every 2-3 weeks
Intramuscular	Testosterone Depot 250 mg	every 2-3 weeks
orally	Andriol	2-4 cps/day
transdermal	Testogel	25-25 mg/day
transdermal	Androderm	2 Membranes/day

Criteria for monitoring testosterone replacement therapy

Psychological and sexual parameters	General well-being, mental and physical activity, mood, libido, erections, sexual activity
Somatic parameters	body proportions, body weight, muscle mass and strength, fat distribution, hair (beard, pubes, forehead hairline), sebum, voice change
Laboratory parameters	Testosterone (SHBG, free testosterone, testosterone in saliva), gonadotropins (DHT, estradiol), erythropoiesis (Hk, Erys, Hb), liver enzymes
Prostate/seed blisters	ejaculate volume, prostate size/inner echoes, PSA in serum, uroflow
Bones	Bone Density

Therapy options for stimulating spermatogenesis

Preparation	Trade name	Application form	Dosage
GnRH pulsatile	Lutrelef	s.c., external micro pump (Zyklomat Pulse)	520 μg/Pulse every 120 min.
Alternatively
HCG (Human Chorionic Gonadotropin)	Choragon	i.m. or s.c.	10002500 IE 2 times/week (Monday and Friday)
HCG (Human Chorionic Gonadotropin)	Predalon	i.m. or s.c.	10002500 IE 2 times/week (Monday and Friday)
in combination with
HMG (Menotropin; Human Menopausal Gonadotropin)	Menogon	i.m. or s.c.	150 IE 3 times/week (Monday, Wednesday, Friday)