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Slow sexual development

Introduction
Cause
Examine
Diagnosis

Introduction

Introduction Sexual infertility is also called sexual dysplasia. The normal development of sexual organs is regulated by hormones in the thalamic-pituitary-gonadal endocrine axis. If the above-mentioned endocrine organs develop lesions, the secretion of the corresponding hormones is significantly reduced or absent, which may lead to sexual organ dysplasia. Sexual naive patients have no secondary sexual characteristics and the genitals are naive. Because the location of the primary lesion is different, the lack of different hormone types, the impact on systemic development, such as pituitary lesions caused by growth hormone deficiency, patients with dwarfism; such as male patients with simple androgen deficiency, long bones Delayed fusion, height is abnormal, the length of the lower body is longer than the length of the upper body, so it is tall when standing and short when sitting. Female patients are deficient in estrogen and the main clinical manifestation is primary amenorrhea. Some normal people develop late in puberty, which can be delayed by 2-4 years compared with the average person. Individual males only develop sexual development after 18 years old, and often have a family history, called puberty delay, which is not a pathological category. Therefore, in the diagnosis of infertility, the puberty delay of normal people should be excluded.

Cause

Cause

Classification of causes:

1. Low gonadotropin-induced idiopathia: Due to hypothalamic and pituitary lesions, gonadotropin secretion is significantly reduced or absent. Such as sexual naive - retinitis pigmentosa - polyphalangeal deformity syndrome, sexual naive - olfactory syndrome, obesity reproductive incompetence syndrome, growth hormone deficiency dwarfism and single gonadotropin deficiency.

2. Gonadal dysplasia: manifested as high gonadotropin.

Examine

an examination

Related inspection

Endocrine function test echinococcosis complement binding test gestational urinary estriol determination (E3) urinary 17-hydroxy-corticosteroid (17-OH-CS) urinary 17-ketone corticosteroid (17-KS)

(1) Medical history: Ask the patient about the age and body development process, and ask if the family members have delayed sexual development. Understand the patient's history of the endocrine system, the history of traumatic brain injury, and whether the gonads have a history of infection or radiation exposure during puberty.

(two) symptoms and signs

1. First observe and test the patient's intelligence level and mental state, check the patient's physical development, the proportion of limbs and trunk, and the position of the five senses. Pay attention to the development of the patient's secondary sexual characteristics, especially the female breast is not developed, and the male has breast development.

2. Check the development of the external genitalia: male penis size, texture, female size and labia development is normal.

(3) Laboratory inspection

1. Determination of hormone levels: including plasma testosterone, estradiol, luteinizing hormone, follicle stimulating hormone; urine 17-ketosteroids.

2. X-ray examination, CT scan of the head, X-ray, and examination of the presence of no tumor in the sellar region of the hypothalamus and pituitary. Whole body X-ray fluoroscopy, X-ray film of the long bones of the extremities were used to detect the fusion of the epiphysis.

3. Chromosome examination: examination of chromatin and karyotype.

Diagnosis

Differential diagnosis

Slow and confusing symptoms of sexual development:

(1) Sexual naive-pigmentary retina-multi-finger (toe) malformation syndrome

The disease is a recessive hereditary disease. Due to hypothalamic developmental defects, gonadotropin-releasing hormone deficiency affects the production of gonadotropins, resulting in gonads not developing. At the same time with other defects and deformities, its main characteristics are obesity, naive, mental retardation, retinitis pigmentosa, multi-finger (toe), congenital heart disease, etc., but the above symptoms may not all appear.

(2) Sexual naive-loss syndrome

The disease is also a genetic disease, mainly characterized by sexual naivety. The sense of smell diminishes or disappears. Due to genetic factors, the hypothalamic, pituitary and olfactory brain regions develop defects.

(3) Obesity reproductive incompetence syndrome

The incidence of this disease is extremely low and should be carefully diagnosed. Before puberty, patients may destroy the pituitary gland due to pituitary or surrounding tumors such as craniopharyngioma, chromoblastoma, etc., invading the hypothalamus, affecting its normal structure and function. The damage of the hypothalamus is not only gonadotropin-releasing hormone deficiency, but also causes obesity. The lack of pituitary gonadotropin directly affects gonadal development, and the main clinical manifestation is moderate obesity. Sexually naive, slow-growing, and other symptoms of hypothalamic lesions such as visual impairment, lethargy, and polyuria.

(4) Growth hormone deficiency

The patient has delayed growth, low body and childish age. Most patients start to see the baby in childhood. The cause of the disease is unclear. In a few cases, the pituitary gland is affected by tumor or chronic schistosomiasis, which affects the secretion of growth hormone and gonadotropin. When the patient grows to puberty, there may be hypogonadal hypoplasia and no secondary sexual characteristics. The male external genitalia is small like a baby, and the rate is nine small as a soybean. Female breasts are not developed, no menstruation, no pubic hair or pubic hair.

(5) Single gonadotropin deficiency

The patient showed that the external genitalia was not developed and had no secondary sexual characteristics. Except for the lack or significant reduction of single gonadotropin, other endocrine functions were normal, and the height was the same as that of the average person, and there was often a family history. When the disease is diagnosed early, it must be differentiated from the puberty delay of normal people. When the two are difficult to diagnose, the chorionic gonadotropin can be used for experimental treatment. The puberty delay can show obvious sexual development, and the sexual development after stopping the drug. Can continue; and single gonadotropin deficiency, once discontinued, sexual development stops.

(6) Primary gonadal dysplasia

The patient has obvious symptoms of gonadal dysplasia, plasma gonadotropin levels are higher than normal, and sex hormone (testosterone, estradiol) levels are significantly reduced. The patient's lesion occurs in the gonad, called primary gonadal dysplasia. Primary gonadal dysplasia is divided into congenital and acquired. Congenital gonadal dysplasia is caused by abnormal chromosomal abnormalities; acquired gonadal dysplasia is caused by genital dysplasia caused by inflammation, trauma, surgical resection or radiation before puberty.

1. Turnr syndrome

The patient's short stature, mental retardation, short neck, neck, elbow valgus, shield chest, no secondary sexual characteristics, females have primary amenorrhea, males may have male external genitalia, but testicular dysplasia. It can also be accompanied by other congenital malformations, such as congenital. D dirty disease and so on. Chromosome examination, male karyotype is 45, XO/46, XY or other chimeras; female karyotype is mainly 45XO, in addition to XO / XY and XO / XXX chimeric, XXqi, XO / XXqi embedded Fit, XXp- or XXq-type.

2. Klinefelter syndrome

It is also a sex chromosome abnormality, showing X multi-body Y monomer, the more X chromosome, the more serious the lesion. The most common type is 47,XXY, and there are several chimeric types such as XY/XXY, XY/XXX, XY/XXYW. Because the extra X chromosome gene mainly determines the seminiferous tubule distortion of the testis, it is also known as the seminiferous tubule development disorder. The patient's performance is hairy, pubic hair is scarce or absent, and the penis and testicles are small. Infertile, less refined, can be accompanied by male breast development, poor mental and other symptoms.

XX male syndrome: The patient's sex chromosome is XX type. However, the gender is male, but a small fraction of the Y chromosome is transferred to the X chromosome or is a concealed chimera. Clinical manifestations of short stature, secondary sexual dysplasia, small penis, testis, azoospermia and infertility.

3. Sertoli-cell-only syndrome (Seroli-cell-only syndrome) patients with testicular seminiferous tubules of spermatogenic epithelial cells are absent, only rich in supporting cells ertoli cells and thus patients without sperm, often due to infertility treatment. In addition to non-fertility, the patient's physical development, genital examination, and sex hormone levels are no different from normal people. In the case of this disease, infertility caused by infection, trauma, radiation damage and other factors should be excluded.

(1) medical history

Ask the patient about the age and body development process and ask if the family members have delayed sexual development. Understand the patient's history of the endocrine system, the history of traumatic brain injury, and whether the gonads have a history of infection or radiation exposure during puberty.

(two) symptoms and signs

2. Check the development of the external genitalia: the size of the male penis, the size of the star nine, the texture, the development of the size of the female's labia.

(3) Laboratory inspection

1, the determination of hormone levels: including plasma testosterone, estradiol, luteinizing hormone, follicle stimulating hormone; urine 17-ketosteroids.

2. X-ray examination, cranial CTX line imaging, to check whether there is tumor in the sellar region of the hypothalamus and pituitary. Whole body X-ray fluoroscopy, X-ray film of the long bones of the extremities were used to detect the fusion of the epiphysis.