Pediatric familial olfactory-hypoplastic syndrome

Introduction to pediatric familial olfactory-sexual hypoplasia syndrome Familial olfactory-sexual hypoplasia syndrome (familialolfactory-sexualaplasiasyndrome) is olfactory-sexual hypoplasia syndrome (anosmiaeunuchoidism), also known as Kallmann syndrome, olfactory-free testis syndrome, olfactory genital developmental disorder syndrome, etc. It is a hereditary disease caused by congenital gonadotropin deficiency causing gonadal dysplasia with loss of olfactory sensation or loss. basic knowledge Sickness ratio: 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: color blindness, neurological deafness, retinitis pigmentosa, cleft lip and palate

The etiology of familial olfactory-sexual dysplasia syndrome in children

(1) Causes of the disease

This disease is a congenital hereditary disease.

(two) pathogenesis

May be X-Linked recessive inheritance or male-limited autosomal dominant inheritance, almost all found in male patients, women may be gene carriers, in the family There may be many people with morbidity, and there may be other males with normal sexual function and olfactory loss or failure. The female sexual function in the family is normal but there may be olfactory failure.

Pathological examination of brain tissue in some patients may reveal defects or hypoplasia of the brain's olfactory lobe, decreased or absent Leydig cells, no sperm formation in the seminiferous tubules, no hypothalamic findings from clinical and pathological materials, and clear pituitary Organic lesions, it is believed that patients with gonadotropin deficiency may be congenital hypothalamic pituitary dysfunction, this selective gonadotropin secretion is insufficient, causative nasoxia, accompanied by olfactory bulb hypoplasia resulting in olfactory loss or failure, gonadotropin The severity of hormone deficiency can be divided into complete or incomplete.

Pediatric familial olfactory-sexual hypoplasia syndrome prevention

Prevent the birth of a child:

Conduct genetic counseling:

For families with a family history: genetic counseling can help adults with selective fertility.

Pre-marital medical examination: plays a positive role in preventing birth defects. The size of the effect depends on the examination items and contents, including the family history of the disease, the personal medical history of the individual, and the consultation of genetic diseases. Systemic birth defect screening is required during antenatal care during pregnancy, including regular ultrasound, serological screening, and chromosomal examination.

Prenatal testing: Systematic birth defect screening, including regular ultrasound, serological screening, and chromosomal examinations, is required during antenatal care during pregnancy.

Complications of familial olfactory-sexual dysplasia syndrome in children Complications, color-blind neurological deafness, retinitis pigmentosa, cleft lip and palate

Combined with color blindness, neurological deafness, retinitis pigmentosa, cleft lip and palate, ichthyosis, epilepsy and mental retardation.

Pediatric familial olfactory-sexual dysplasia syndrome Symptoms Common symptoms Olfactory dysfunction Testicular hypoplasia Short penis without beard and pubic hair secondary sexual characteristics

1. Congenital loss of smell or failure of vinegar, perfume, ammonia and other aromatic volatile substances without smell or smell is very slow.

2. Sexual childishness can be found in childhood, testicles are small, often lacking boy temperament, no secondary sexual characteristics before and after puberty, lack of pubic hair and pubic hair, sparse or female-type distribution, penis like young children, testicular dysplasia, Domestically, when one patient was 23 years old, the bilateral testes were only 0.5 cm × 0.7 cm, and the penis was 2.5 cm long.

3. Other functions of the pituitary gland to secrete other hormone-promoting functions are in the normal range, so there is no abnormal function of thyroid gland or adrenal gland.

Examination of familial olfactory-sexual hypoplasia syndrome in children

Plasma testosterone, blood follicle-stimulating hormone, urinary follicle-stimulating hormone (FSH) low or even undetectable, blood luteinizing hormone releasing hormone (LH-RH) stimulation test can be unresponsive, testicular biopsy can see the number of mesenchymal cells decreased Or completely lacking, lack of sperm formation in the fine tubules.

Abnormal waveforms can be seen on the EEG. B-ultrasound can detect gonads (testicles or ovaries) and uterine dysplasia, cryptorchidism, etc.

Diagnosis and diagnosis of familial olfactory-sexual dysplasia syndrome in children

According to the clinical olfactory loss and sexual naive diagnosis, pathological examination shows that the nasal mucosal olfactory nerve cells are underdeveloped, and testicular biopsy is helpful for diagnosis.

Different from other idiopathic diseases, this disease is accompanied by a lack of olfactory and normal sex chromosomes to help diagnose.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.