Sexual maturation is a period in the life of every human being, during which individuals of both sexes, through intensive morphological and physiological changes, achieve sexual maturity and reproductive capacity. Puberty is a term commonly used as synonymous with puberty, but it often carries additional information about changes in the cognitive, psychological and social spheres. Puberty is one stage in the lifelong evolution of the hypothalamic-pituitary-gonadal system.
In the pathology of this period, we distinguish two groups of disorders - premature puberty and delayed puberty.
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Late puberty - what is it?
Delayed puberty has a statistical definition based on epidemiological studies. The onset of development, including growth closely related to maturation, takes place at different times and is influenced by genetic and environmental factors. In our latitude, we are talking about such a situation when the somatic and hormonal features of puberty are not present in girls over the age of 13 and boys are over 14, or menarche (first menstruation) does not appear before the age of 16. Puberty is also considered delayed when the first signs of puberty are timely but have not progressed since then. Patients may develop pubic and axillary hair because its development depends on the androgens produced by the adrenal glands.
Delayed puberty occurs in 3% of the population. It affects boys more often than girls and in most cases is a temporary disorder that resolves spontaneously over time and further sexual development is normal, leading to normal growth and fertility. A transient delay is understood to be a delay not exceeding 6 months at any stage of maturation. However, early diagnosis, causal treatment and stimulation of puberty in cases of organic causes of delayed puberty are essential in order to achieve normal puberty progression and proper final growth.
Delayed puberty may be a consequence of:
- constitutional growth and development retardation (KOWR) due to chronic diseases,
- impaired hormonal function of the gonads caused by their primary damage with secondary increases in gonadotropin levels (primary hypogonadism, hypergonadoropic hypogonadism),
- primary damage to the hypothalamic-pituitary system with a low concentration of gonadotrophins (secondary hypogonadism, hypogonadotrophic hypogonadism).
Constitutional Retardation of Growth and Development (KOWR)
This problem is the most common cause of delayed puberty. Untreated children begin puberty between the ages of 14 and 17 and reach normal final height. The maturation of the endocrine system is also delayed proportionally to the delay in the development of somatic features. Moreover, the basal concentration of gonadotrophins corresponds to the values corresponding to the bone age of the 1st growth age.
Hypergonadotrophic (primary) hypogonadism
It is the lack of gonadal function during puberty or puberty caused by their damage on both sides. The ability of gonadoliberin and gonadotropins is not disturbed, and the lack of negative regulation of their secretion by the gonadal hormones is the cause of the excess of gonadotropins in the blood.
Hypogonadotrophic (secondary) hypogonadism
This is a lack of gonadal function due to a lack of gonadotrophin secretion. It is characterized by a reduced level of the pituitary gland hormones - follicle stimulating hormone (FSH) and luteinizing hormone (LH). Congenital isolated hypogonadotrophic hypogonadism is difficult to differentiate from constitutional growth and puberty retardation. It should be remembered that the analysis of the growth process is important here - in congenital isolated hypogonadism it is delayed until the chronological age, but adequate to the bone age.
Delayed puberty - classification of causes
Reasons for delayed puberty in girls:
I. Idiopathic (constitutional retardation of growth and development of KOWR).
II. Primary damage to the gonads (hypergonadotrophic hypogonadism):
- Turner syndrome: is the most common cause of primary hypogonadism in women. It is caused by the lack of one X chromosome or a disturbance of its structure (or both X chromosomes). The two main problems in this syndrome are growth retardation and a lack of puberty;
- enzymatic blocks for the production of estrogens,
- premature loss of ovarian function,
- damage to the gonads in the course of radio- or chemotherapy, as a result of inflammation, cancer or mechanical injuries.
III. Injury to the hypothalamus and pituitary gland (hypogonadotrophic hypogonadism):
- developmental defects of the central nervous system,
- Kallman syndrome: the most common form of isolated gonadotropin deficiency associated with an olfactory disorder. this disease is passed on as a dominant trait linked to the X chromosome;
- Prader-Willi syndrome: birth defect syndrome caused by a chromosomal aberration. The clinical picture of the disease includes: short stature, mental retardation, underdevelopment of the genital organs and obesity caused by a lower energy requirement than in healthy people, with a simultaneous constant unrestrained feeling of hunger;
- Laurence-Monn syndrome: an autosomal recessive disorder; In this syndrome, apart from short stature, there is a delay in intellectual development, retinitis pigmentosa and a delay in sexual maturation;
- idiopathic hypopituitarism,
- organic lesions of the hypothalamus and pituitary gland of neoplastic, inflammatory, vascular or traumatic origin.
IV. Functional hypogonadotrophic hypogonadism:
- disturbances in the body's energy balance (malnutrition, anorexia, excessive physical training),
- chronic diseases of the circulatory system and kidneys,
- absorption disorders,
- Hypothyroidism,
- debilitating mental illness.
Delayed puberty - diagnosis
The aim of the diagnosis of delayed puberty are measures aimed at assessing the degree of maturity (pubertal stage, determining the age of the skeleton) and explaining the causes of delayed sexual development.
The maturation scale should be used to assess the advancement of maturation. For this purpose, the methods used in auxology (the science of development) come to the rescue, which uses the following methods of assessing the course of puberty:
1) growth rate (percentile grids),
2) bone age,
3) evaluation of the pubertal stage according to the Tanner scale:
a) for pubic hair (pubarche) - 5 stages,
b) for axillary hair - 4 stages,
c) for the assessment of the development of the mammary glands (thelarche) - 5 stages.
In addition to the assessment of the degree of maturity, an interview should also be conducted:
family, taking into account the age of puberty of parents and siblings,
concerning health condition (past diseases, injuries),
concerning neurological symptoms (changes in behavior, changes in appetite, headache, fainting).
In the next stage of explaining the causes of delayed puberty in a child, the following are also important:- Laboratory tests:
basic: blood count, blood fall, GOT (glutamine-oxaloacetate transaminase), GPT (glutamine-pyruvate transaminase), yGT (γ glutamyl-transferase), AP (alkaline phosphatase), creatinine, total protein, IgA, celiac disease laboratory parameters, test urine,
- hormonal tests, which include, among others determination of the level of thyroid hormones (TSH, FT4), gonadotropins (LH and FSH), estradiol, prolactin, progesterone;
- dynamic hormone tests: GnRH stimulation test (gonadoliberin antagonist),
determination of sex chromosomes when Turner syndrome is suspected;
- picture diagnosis:
- ultrasound of the ovaries and uterus,
-RTG of the hand and wrist to determine bone age,
- magnetic resonance imaging of the head when lumpy lesions in the brain are suspected;
- molecular and genetic research have a special place. Karyotype testing should be considered in all children with delayed puberty.
Delayed puberty - treatment
Treatment of delayed treatment requires a precise diagnosis of the cause, assessment of bone age and psychological consequences for the patient and her family in order to select the best and most effective method of therapy and provide information on the course of the entire treatment process and its prognosis.
Treatment of constitutional growth and development retardation (KOWR)
Constitutional growth and maturation retardation do not require treatment. Untreated children achieve normal sexual development and final height according to their potential. However, in a situation where this leads to psychological conflicts related to reduced self-esteem in relation to properly maturing peers, pharmacological treatment with the use of low doses of sex steroids is recommended.
The aim of such treatment is to stimulate sexual maturation, but not to accelerate skeletal maturation. Girls can be given low, gradually increasing doses of estrogen over a period of about 6-12 months.
Treatment of primary and secondary hypogonadism
In all cases of hypogonadism, the aim should be to treat the underlying disease.
Therefore, in the treatment of primary hypogonadism, substitution of androgen preparations in the form of gels, tablet patches and intramuscular injections with prolonged action and short-acting preparations are used.
In the case of secondary hypogonadism, in some cases there is a chance of restoration of fertility as a result of the use of exogenous gonadotrophins (FSH, LH). Substitution with sex steroids is also used. Girls, after reaching the skeletal age of 12 years, are initially given low doses of estradiol which are gradually increased as prescribed by the doctor. After the development of secondary sexual characteristics (on average after 2-3 years), full cyclic estrogen-progestogen supplementation is introduced, which results in regular monthly cycles.
In girls with Turner syndrome, one of the main goals of treatment is to improve final height. Growth stimulation is achieved by administering synthetic growth hormone preparations by daily subcutaneous injections. Such treatment is carried out from around the age of 6 until skeletal maturity is 14 years old. In order to achieve optimal growth, estrogen substitution, followed by estrogen-progestogen substitution, is introduced later than in other cases of hypogonadism.
Source:
1. M. Pawlikowski, Endokrynologia, Wydawnictwo Lekarskie PZWL, Warszawa 2003
2. G. Jarząbek-Bielecka, R. Czepczyński, M. Pisarska-Krawczyk, W. Kędzia, P. Wojtyła-Buciora, Problem hypogonadyzmu ze szczególnym uwzględnieniem problemu u dziewcząt, Medycyna Rodzinna 2018; 21(1): 58-63
3. https://www.medme.pl/choroby/opoznione-dojrzewanie-plciowe,286.html
4. G. Jarząbek-Bielecka, E. Sowińska-Przepiera, A.Szafińska-Dolata, W. Kędzia, A. Kędzia, Hipogonadyzm hipogonadotropowy jako przyczyna opóźnionego pokwitania dziewcząt, Endokrynologia Pediatryczna, Vol. 13/2014 Nr 4(49)
5. https://www.mp.pl/pacjent/pediatria/choroby/endokrynologia/68501,opoznione-dojrzewanie-plciowe
6. G. Jarząbek-Bielecka, E. Sowińska-Przepiera, A.Szafińska-Dolata, W. Kędzia, A. Kędzia, Opóźnione pokwitanie dziewcząt, Endokrynologia Pediatryczna, Vol. 13/2014 Nr 3(48)
7. E. Krajewska-Siuda, E. Małecka-Tendera, Konstytucjonalne opóźnienie wzrastania i dojrzewania – trudności diagnostyczne i prognozowanie wzrostu, Endokrynologia Pediatryczna, Vol. 1/2003 Nr 3
FAQ
1. Is it possible to completely recover from delayed puberty?
Congenital or acquired damage to the pituitary or gonads is unfortunately a permanent feature and requires the constant administration of sex hormones. This procedure allows for the full development of external gender characteristics. Girls (with a preserved uterus) experience regular menstrual bleeding, but the prognosis of having children is very uncertain.
2. What is delayed puberty?
In our latitude, we refer to delayed puberty when somatic and hormonal features of puberty are not present in girls over the age of 13 and boys over 14, or menarche (first menstruation) does not appear before the age of 16. Puberty is also considered delayed when the first signs of puberty are timely but have not progressed since then. Patients may develop pubic and axillary hair because its development depends on the androgens produced by the adrenal glands.
