Symptoms of precocious puberty in children, parents must read

More and more children are entering puberty early and showing symptoms of puberty, which is called precocious puberty. There are true precocious puberty and false precocious puberty. Parents should pay attention to the developmental characteristics of puberty in girls before the age of 8 and in boys before the age of 9.

(1) Idiopathic precocious puberty: It is usually sporadic and more common in females (the ratio of female to male is approximately 4:1). A few cases may be familial (possibly autosomal recessive). The cause of the disease is unknown. Females usually develop the disease before the age of 8, in the following order: breast development first → pubic hair appearance → menstruation → axillary hair appearance, labia development (with pigmentation), and increased vaginal secretions.

Males begin sexual development before the age of 9, with enlargement of the testicles and penis, increase in wrinkles on the scrotal skin and darker pigmentation, increased penile erections and even sperm production, increased muscle mass and decreased subcutaneous fat. Both sexes experience sudden growth in stature and advanced bone age, which may eventually lead to premature fusion of the epiphyses and shorten adult height. Psychosexual maturity also occurs earlier, and a few may have a history of sexual intercourse or pregnancy.

(2) Precocious puberty caused by central nervous system diseases: Its clinical manifestations are similar to those of idiopathic puberty, except that this type may also have manifestations related to organic lesions of the nervous system. Differentiation mainly relies on cranial X-ray, CT, MRI and other examinations.

(3) Primary hypothyroidism (Hypothyroidism) with precocious puberty: A small number of people who suffer from hypothyroidism before childhood may have precocious puberty. This may be due to the decrease in thyroid hormone levels, which weakens the negative feedback and increases the secretion of TRH in the hypothalamus. TRH not only stimulates the pituitary gland to secrete more TSH, but also stimulates the secretion of PRL, LH and FSH, leading to precocious puberty.

(4) Albright syndrome with precocious puberty: Patients have skeletal dysplasia, brown pigmentation spots on the skin of the trunk, and are often accompanied by precocious puberty. The cause is unknown. It is more common in girls and rarely in boys. The sequence of sexual development is different from normal: normal development is usually breast development → pubic hair growth → menstruation, while this disease is that menstruation comes first (the reproductive organs are mature) and then breast development.

(5) Silver syndrome with precocious puberty: The main symptoms are dwarfism, congenital hemihypertrophy and precocious puberty. Growth hormone levels are normal at birth, but if large amounts of growth hormone are given later in life, rapid height growth may be observed, presumably due to the low sensitivity of target cells to growth hormone. Intrinsic precocious puberty is characterized by a significant delay in bone age compared with sexual development.

(6) Williams syndrome with precocious puberty: This syndrome is accompanied by many organ developmental malformations, especially a genetic defect disease causing arterial stenosis. The genetic defect is the deletion of 16 genes including LIMK1, WBSCR1, WBSCR5, RFC2 and elastin gene at the 7q11.23 locus. Clinical manifestations include mental retardation, learning disabilities, cognitive and personality peculiarities, often accompanied by precocious puberty. Differential diagnosis is based on detection of gene deletion.

(7) Orchiotoxicosis with male precocious puberty: This disease is also known as familial male non-gonadotropin-dependent precocious puberty with early development of Leydig cells and germ cells. Patients present with enlarged penis, and some are born with enlarged penis. The Leydig and Sertoli cells of the testes mature prematurely and produce sperm, sometimes accompanied by Leydig cell hyperplasia. The children's longitudinal growth and bone age are advanced, their muscles are well-developed, and those with penile erection and ejaculation may be fertile. A small number of adult patients have spermatogenesis disorders. The vast majority are familial, and a few are sporadic. The cause is a missense mutation in the LH/HCG receptor gene (2p21).

(8) Precocious puberty after treatment of congenital adrenal hyperplasia: In patients with congenital adrenal hyperplasia, such as 11β-hydroxylase and 21-hydroxylase deficiency, after treatment with glucocorticoids or mineralocorticoids, plasma ACTH levels are suppressed and the production of gonadal steroids by the adrenal glands is reduced. However, due to delayed diagnosis and treatment during this period, the patient's bone age is advanced. If the threshold for puberty has been reached, the patient may experience activation of the hypothalamic-pituitary-gonadal axis, leading to precocious puberty. Similarly, this may also be the case for patients who have been treated with gonadal steroids in the past.

2. Pseudo-precocious puberty The main difference between the clinical manifestations of pseudo-precocious puberty and true precocious puberty is that its sexual development and maturation are incomplete, that is, it only shows the development of some secondary sexual characteristics, but there is no maturation of germ cells (sperm and follicles) and no fertility.