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Symptoms of delayed puberty
Last reviewed: 06.07.2025

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The main symptoms of delayed puberty in girls against the background of hypofunction of the central regulatory departments of the reproductive system (central form of delayed puberty):
- absence or underdevelopment of secondary sexual characteristics at the age of 13-14 years;
- absence of menstruation at the age of 15-16 years;
- hypoplasia of the external and internal genitalia combined with growth retardation.
The combination of the listed signs of hypoestrogenism with a pronounced deficit in body weight, decreased vision, impaired thermoregulation, prolonged headaches or other manifestations of neurological pathology may indicate a violation of the central regulatory mechanisms.
The clinical picture of Shereshevsky-Turner syndrome (dysgenesis of the gonads) is characterized by a wide range of anomalies. Patients have a stocky build and abnormal posture, a disproportionately large shield-shaped chest with widely spaced nipples of underdeveloped mammary glands, valgus deviation of the elbow and knee joints, aplasia of the phalanges, multiple birthmarks or vitiligo, hypoplasia of the fourth and fifth phalanges and nails. A short "sphinx neck" with wing-shaped folds of skin ("swallow neck") running from the ears to the humeral process and a low hairline on the neck are often encountered. They are characterized by such changes in the bones of the facial skull as "fish mouth", "bird profile" (due to micro- and retrognathia), deformation of the teeth. Facial features are altered due to strabismus, epicanthus, ptosis and deformation of the auricles. Hearing impairment, congenital heart defects, aorta and urinary organs, as well as the development of hypothyroidism, autoimmune thyroiditis and diabetes mellitus are possible.
In erased forms, most congenital stigmas are not determined. However, even with normal growth of patients, it is possible to detect an irregular shape of the auricles, a high palate, low hair growth on the neck and hypoplasia of the IV and V phalanges of the hands and feet.
Secondary sexual characteristics do not appear in patients without taking estrogen drugs. In the complete absence of mammary glands, sparse hair growth in the pubis and armpits is possible.
The structure of the external and internal genitalia is female, but the labia majora and minora, vagina and uterus are severely underdeveloped. Cases of the so-called Shereshevsky-Turner syndrome have been described for patients with the 45X/46XY karyotype, which is characterized by masculinization, clitoral hypertrophy and male-pattern hair growth.
In patients with a “pure” form of dysgenesis of the gonads or Swyer syndrome with severe sexual infantilism, there are no somatic developmental anomalies.
The karyotype of patients is most often 46.XX or 46.XY. Observed familial cases of "pure" form of gonadal dysgenesis necessitate a more thorough analysis of the genealogical tree of patients. Sex chromatin is reduced in most patients, but its content is also normal (with karyotype 46.XX). Patients with a Y chromosome in the karyotype have a number of clinical and therapeutic-diagnostic features. In addition to delayed sexual development, patients with a female type of internal genitalia structure and the location of dysgenetic gonads in the pelvic cavity may have virilization of the external genitalia with normal genital hair growth.
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