Gonadal dysplasia

Introduction Gonadal dysplasia: Also known as Turner's syndrome, xo type, lacking an X chromosome. It belongs to the sex chromosome genetic disease. Due to abnormal sex chromosomes, the ovary cannot grow and develop, so the ovary is a cord-like fibrous tissue with no primordial follicles and no eggs. Therefore, the lack of female hormones, leading to secondary sexual development and primary amenorrhea, is the only monomeric syndrome that humans can survive. Typical gonadal dysplasia is characterized by height and weight loss at birth, obvious swelling of the back of the hands and feet, and sagging skin on the neck. After birth, height growth is slow, the main clinical features are: female phenotype, low hairline, 50% have neck sputum; shield chest, nipple spacing widened; elbow valgus and multiple sputum. About 35% of children have a heart malformation. Aortic coarctation is more common. In addition, kidney deformities (such as horseshoe kidney, ectopic kidney, hydronephrosis, etc.), dysplasia of the nail, and shorter and more metacarpal bones of the 4th and 5th metacarpals are also visible. The external genitalia of the child has been kept in infant type. The labia minora is poorly developed and the uterus cannot be touched. Most children are intelligent. Often due to growth retardation, adolescent sexless development, primary amenorrhea. No treatment can promote ovarian development and will not restore the reproductive function of the patient. The purpose of treatment is to promote height and stimulate the development of the breast and reproductive organs.

Cause

Causes of gonadal dysplasia

It is due to abnormal sex chromosomes, which makes the ovary unable to grow and develop normally. Therefore, the ovary will have a cord-like fibrous tissue, no primordial follicles, and no eggs. Therefore, the lack of female hormones, leading to secondary sexual development and primary amenorrhea, is the only monomeric syndrome that humans can survive.

The premise of normal sexual development is that the anatomy and physiological functions of the hypothalamus, pituitary gland, and gonads are normal. Any factors affecting these three parts, which are low in function, may lead to secondary sexual development or sexual dysplasia.

an examination

Related inspection

Systemic examination of chromosomal human chorionic gonadotropin

Gonadal dysplasia check

In addition to chromosomes and full physical examination, gynecology and B-ultrasound are also needed to check the genital condition. Laparoscopic and/or pathological examinations may be performed as necessary to confirm the diagnosis. At the time of treatment, a gonad is surgically removed according to the shape of the vulva. It is induced by hormones to develop into male or female. It can be fertile by treating a small part.

Differential diagnosis

Symptoms of confusing hypogonadal dysplasia

(a) hypothalamic abnormalities

1. Acquired acquired lesions: These diseases include tumors in the hypothalamus, inflammation, trauma, vascular disease, granuloma, etc. Some patients cannot find obvious causes. Clinically, they often have short or tall stature, short or slender limbs, and some patients have hypothalamic lesions: diabetes insipidus, narcolepsy, anorexia, bulimia, thermoregulatory disorders, visual field defects, etc., most patients There are one or more of the above symptoms, and a very small number of patients have no other symptoms except clinically. Among them, obesity reproductive incompetence syndrome caused by hypothalamic lesions may be one of the above factors. The disease is rare, and it needs to be differentiated in some patients with obesity and puberty development delay, and the latter has no central damage.

2. Innate factors: this type of disease is sexually idiopathic - retinitis pigmentosa - Laurence-Moon-Biedle syndrome, sexual naive - low muscle tone syndrome (Preder-Willi syndrome), Familial cerebellar ataxia. These diseases are clinically characterized. Typical cases are not difficult to diagnose. The symptoms and symptoms of atypical cases may not be manifested or incomplete, and may be accompanied by other malformations, which need to be carefully identified in the clinic.

(two) pituitary childish

1. Anterior pituitary dysfunction: pituitary tumors, hemorrhage, trauma, immunity, sarcoidosis and other factors, the pituitary function is impaired, may affect the secretion and secretion of gonadotropin, such as occurs in adolescence, affecting Gonadal signs develop. Clinically, patients with sexual dysplasia, with or without its pituitary dysfunction, such as giant disease, hyperprolactinemia, non-functional pituitary tumor compression symptoms, anterior pituitary function all or part of the symptoms of hypotension.

2. Selective gonadotropin deficiency: The patient has no other endocrine abnormalities except for sexual naive or sexual development, and the pituitary imaging examination is normal. The patient is of a scorpion-like body, and the epiphysis is not fused; the patient may have a little pubic hair growth due to the secretion of certain androgens from the adrenal gland.

(three) gonad lesions

1. The gonad is due to tumor or other causes: surgical resection, inflammatory radiation exposure is impaired, the gonads cannot secrete sex hormones, and the second sexual characteristics are not developed.

2. Gonadal dysplasia: mostly congenital diseases, gonadal dysplasia, accompanied by other malformations, some of which are related to abnormal chromosome number, such as congenital gonadal development disorder (Turner syndrome), the patient's somatic cell karyotype is 45, XO, appearance female, short, with neck, shield chest, fourth metacarpal short deformity, no menstruation. Congenital fine tubule dysplasia (Klinefeter syndrome), the patient's somatic cell karyotype is 47,XXY, male appearance, poor sexual development, but also male breast development.

Primary gonad disease and hypothalamic and pituitary naive, endocrine measurement difference is that patients lack the feedback inhibition of sex hormones, the level of gonadotropin in the body is significantly higher than normal, which is of great significance in the differential diagnosis of puberty, but Before puberty, gonadotropin has not been secreted in large amounts, and it is of little value as an indicator of differentiation. For this type of patient, LHRH stimulation test is generally used - patients with delayed puberty have similar or higher than prepubertal levels; hypothalamic and pituitary naive reactions are poor or non-responsive; patients with primary gonad disease are overreacted .

For the diagnosis of gonadal dysplasia, in addition to chromosome and full physical examination, gynecological and B-ultrasound examination of internal genital conditions. Laparoscopic and/or pathological examinations may be performed as necessary to confirm the diagnosis. At the time of treatment, a gonad is surgically removed according to the shape of the vulva. It is induced by hormones to develop into male or female. It can be fertile by treating a small part.

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