The anamnesis (medical history) represents an important component in the diagnosis of pubertas tarda (delayed puberty). Family history What is the general health of your relatives? Are there any diseases in your family that are common? Are there any hereditary diseases in your family? Social anamnesis Current medical history/systemic medical history (somatic and psychological complaints). … Delayed Puberty (Pubertas Tarda): Medical History
Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99). Dysgenesis (malformation/development)* * * , unspecified. Gonadal dysgenesis* * * – malformation/misdevelopment of the gonads. Klinefelter syndrome* – genetic disease with mostly sporadic inheritance: numerical chromosomal aberration (aneuploidy) of the sex chromosomes (gonosomal anomaly), which occurs only in boys or Men occurs; in the majority of cases characterized … Delayed Puberty (Pubertas Tarda): Or something else? Differential Diagnosis
A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body weight, height; furthermore: Inspection (viewing) of the skin, mucous membranes, abdominal wall, and inguinal region (groin area). Inspection and palpation (palpation) of the thyroid gland [goiter (thyroid enlargement)?] Gynecological examination (girl) Inspection Vulva (external, … Delayed Puberty (Pubertas Tarda): Examination
2nd order laboratory parameters – depending on the results of the medical history, physical examination, etc. – for differential diagnostic clarification Hormone diagnostics Stage I LH FSH 17-beta estradiol (girls) Testosterone (boys) TSH STH (somatotropic hormone (STH), somatotropin, growth hormone). Inhibin B Stage II GnRH test – when serum gonadotropins (LH/FSH) are low. GHRH test … Delayed Puberty (Pubertas Tarda): Test and Diagnosis
Therapeutic target In cases of proven hypogonadism (endocrine dysfunction of the testes leading to testosterone deficiency), induction of puberty. Active substances (main indication) – in girls Estrogens/gestagens Active ingredients Dosage Duration of therapy Estradiol valerate 0.2 mg/d (day of month: 1-28) 6 months Estradiol valerate 0.5 mg/dmonth 1-28) 6th-12th month Estradiol valerate +chloromadinone acetate 1-1.5 … Delayed Puberty (Pubertas Tarda): Drug Therapy
Optional medical device diagnostics – depending on the results of the history, physical examination, laboratory diagnostics, and obligatory medical device diagnostics – for differential diagnostic clarification. Abdominal sonography or vaginal sonography – for evaluation of genital organs (ovaries/ovaries and uterus/uterine). Scrotal sonography (synonyms: testicular sonography; testicular ultrasound) is a method of examination of the scrotal … Delayed Puberty (Pubertas Tarda): Diagnostic Tests
1st order Gonadectomy (removal of the gonads) may be required An intermediate-risk gonadal degeneration is present in: Ullrich-Turner syndrome (UTS) with Y-linked components. 17β-HSD (17b-hydroxysteroid dehydrogenase). Gonadal dysgenesis (maldevelopment of the gonads). Partial androgen insensitivity syndrome (PAIS) with scrotal gonadal location (location of the testis in the scrotum).
The following symptoms and complaints may indicate delayed puberty (pubertas tarda): Leading symptoms Girls: Failure of pubertal development (breast development B1 in girls); a typical pubertal development is described below: Thelarche (breast development), begins at the age of 9 to 12 years. Pubarche (pubic hair),begins at the age of 10 to 12 years. Growth spurt: … Delayed Puberty (Pubertas Tarda): Symptoms, Complaints, Signs
