Symptoms of delayed puberty
Last reviewed: 23.04.2024
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The main symptoms of delayed puberty in girls on the background of hypofunction of the central parts of the reproductive system regulation (central form of puberty delay):
- absence or underdevelopment of secondary sexual characteristics at the age of 13-14;
- absence of menstruation at the age of 15-16 years;
- hypoplasia of the external and internal genital organs in combination with growth retardation.
The combination of these signs of hypoestrogenism with severe body weight deficit, 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 the Shereshevsky-Turner syndrome (dysgenesis of sexual glands) is characterized by a wide range of anomalies. Patients have a stocky physique and irregular posture, a disproportionately large shield-shaped chest with widely spaced nipples of undeveloped mammary glands, valgus deviation of the elbow and knee joints, aplasia of phalanges, multiple birthmarks or vitiligo, hypoplasia of IV and V phalanges and nails. Often there is a short "neck of the sphinx" with pterygoid folds of the skin ("flippery neck"), running from the ears to the shoulder process, and a low line of hair growth on the neck. For them, such changes in the bones of the facial skull as "fish mouth", "bird profile" (due to micro- and retrognathy), deformation of teeth are characteristic. The facial features are changed 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.
With erased forms, most congenital stigmas are not determined. However, even with normal growth of patients, irregular shape of the ear canal, high palate, low hair growth on the neck and hypoplasia of the IV and V phalanges of the hands and feet can be detected.
Secondary sexual characteristics in patients without estrogen preparations do not appear. In the complete absence of mammary glands, there may be scanty hair embolism of the pubis and axillae.
The structure of the external and internal genital organs is feminine, but the large and small labia, vagina and uterus are sharply underdeveloped. For patients with a karyotype of 45X / 46XY, cases of the so-called Shereshevsky-Turner syndrome are described, for which masculinization, clitoral hypertrophy and male-type hair growth are characteristic.
In patients with a "pure" form of dysgenesis of sexual glands or Svayer syndrome with pronounced sexual infantilism, there are no somatic abnormalities of development.
Karyotype in patients most often 46.XX or 46.XY. The observed family cases of a "clean" form of gonadal dysgenesis necessitate a more thorough analysis of the genealogical tree of patients. Genital chromatin in most patients is reduced, but it is also possible its normal content (with a karyotype of 46.XX). Patients with a Y-chromosome in a karyotype have a number of clinical and therapeutic-diagnostic features. In addition to the delay in sexual development in women with female type of internal genitalia and the location of dysgenetic sexual glands in the pelvic cavity, virilization of the vulva can be performed with normal sexual hair.
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