Delayed Puberty (Pubertas Tarda): Or something else? Differential Diagnosis

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 by a supernumerary X chromosome (47, XXY); clinical picture: large stature and testicular hypoplasia (small testis), caused by hypogonadotropic hypogonadism (gonadal hypofunction); here usually spontaneous onset of puberty, but poor pubertal progress.
  • Maldescensus testis* – location of the testis outside the scrotum.
  • Noonan syndrome* * – genetic disorder with autosomal recessive or autosomal dominant inheritance that resembles the symptoms of Turner syndrome (short stature, pulmonary stenosis or other congenital heart defects; Low-set or large ears, ptosis (drooping of the upper eyelid ), epicanthal fold (“Mongolian fold”), cubitus valgus/abnormal position of the elbow with increased radial deviation of the forearm to the upper arm).
  • Turner syndrome (synonyms: Ullrich-Turner syndrome, UTS)* * – genetic disorder that usually occurs sporadically; girls/women with this peculiarity have only one functional X chromosome instead of the usual two (monosomy X); u. Among other things, with an anomaly of the aortic valve (33% of these patients have an aneurysm/diseased bulging of an artery); it is the only viable monosomy in humans and occurs approximately once in 2,500 female newborns.

Endocrine, nutritional, and metabolic diseases (E00-E90).

  • Adrenogenital syndrome (AGS)* * * – autosomal recessive inherited metabolic disease characterized by disorders of hormone synthesis in the adrenal cortex.
  • Diabetes mellitus* * * (diabetes).
  • Hyperprolactinemia* * * – too high prolactin levels in the blood.
  • Hypothyroidism* * * (hypothyroidism) in autoimmune genesis.
  • Hyperthyroidism (hyperthyroidism)
  • Kallmann syndrome (synonym: olfactogenital syndrome)* * * – genetic disorder that can occur sporadically, as well as be inherited autosomal dominant, autosomal recessive and X-linked recessive; symptom complex consisting of hypo- or Anosmia (decreased to absent sense of smell) in conjunction with testicular or ovarian hypoplasia (defective development of the testis or ovaries, respectively); prevalence (disease frequency) in males 1: 10,000 and in females 1: 50,000.
  • Deficiency of growth hormone (synonyms: somatotropic hormone (STH), growth hormone abbreviations: STH, GH, HGH; English : growth hormone, human growth hormone)* * * , unspecified.
  • Cushing’s disease* * * – group of diseases leading to hypercortisolism (hypercortisolism; excess of cortisol).
  • Cystic fibrosis (ZF)* * * – genetic disease with autosomal recessive inheritance characterized by the production of secretions in various organs that need to be tamed. – genetic disease with autosomal recessive inheritance, which leads to an increase in the viscosity of bodily secretions; the viscous mucus in the bronchi results in chronic cough, bronchiectasis, frequent recurrent (recurring) lung infections and severe pneumonias (lung infections)

Infectious and parasitic diseases (A00-B99).

  • Infections* * * , unspecified

Mouth, esophagus (food pipe), stomach, and intestines (K00-K67; K90-K93).

Musculoskeletal system and connective tissue (M00-M99).

  • Autoimmune diseases* * * , unspecified.

Psyche – nervous system (F00-F99; G00-G99).

  • Anorexia nervosa (anorexia nervosa)
  • Hypothalamic/pituitary granulomas* * * – nodular changes in the area of the hypothalamus or pituitary gland (pituitary gland).

Genitourinary system (kidneys, urinary tract – sex organs) (N00-N99).

Injuries, poisoning, and other sequelae of external causes (S00-T98).

  • Injuries, unspecified* * *

Other causes

  • Chronic diseases, unspecified* * * (e.g. Crohn’s disease).
  • Constitutional pubertas tarda* * * .
    • Up to 50% of cases in boys
    • About 16% of cases in girls
  • Radiatio (radiotherapy)* * *

Medication

  • Androgens* *
  • Anabolic steroids* *
  • Chemotherapeutic agents* * *
  • Thyroxine (thyroid hormone)* * *

* Boys * * Girls * * * Both sexes