Syndrome Nunan

Description:

The syndrome Nunan (Ulrich-Nunan's syndrome, a terneroidny syndrome with a normal karyotype) is a rare inborn pathology, is inherited on autosomal dominantly type, most often has family character. Also sporadic cases of this disease meet. The syndrome assumes existence of a phenotype characteristic of Shereshevsky-Turner's syndrome at individuals women's and male with a normal genotype.
Most fully it was described  by the pediatrician Zh. Nunen in 1963. In 1971 on the symposium devoted to questions of cardiovascular pathology for designation of a symptom complex Nunan is officially recognized epony "the Syndrome".

Syndrome symptoms Nunan:

Nunan is characteristic of a clinical picture of a syndrome the symptomatology inherent to Sherishevsky-Turner's syndrome. The specific person, with the hypertelorism phenomena, an anti-Mongoloid section of eyes which is low put by auricles attracts attention. The wide nose bridge is characteristic.

Patients always undersized. The reason of a growth inhibition is not specified as the level of a basal and stimulated growth hormone normal.
Various inert deformations, defects a razviya of cardiovascular system are expressed.
Besides, pathology of urinogenital system is of great importance, degree expressiveness of which is various. Often such anomalies as gopo-and an aplasia of kidneys, a hydronephrosis, an uropathy owing to obstruction are found in patients, the cryptorchism, anarchy and an atrophy of testicles, поликситоз is characteristic. The spermatogenesis up to an azoospermism is broken.
Disturbances of reproductive function it is observed at males, women with a syndrome Nunan often have normal menstrual function and are capable to fertilization.
Delay of intellectual development it is rare when reaches moronity level.

Diagnosis of a syndrome includes opredeney the level of hormones - testosterone, estrogen, gonadotrophins; the karyotyping research where the normal genotype 46 XX or 46XY comes to light is also obligatory.

Differential diagnosis is carried out with Sherishevsky-Turner's syndrome.
Criteria of diagnosis include:
1. Floor: the syndrome Nunan is characteristic for women's, and of a male.
2. Sexual characters: the dysgenesis of gonads is always found in patients with Sherishevsky-Turner's syndrome, at patients with a syndrome Nunan - is more often normal development.
3. Intellectual мнестические abilities: patients with a syndrome Nunan suffer from an oligophrenia more often, than patients with Sherishevsky-Turner's syndrome.
4. Disturbance of lymphatic outflow meets at a syndrome more often Nunan while it at Sherishevsky-Turner's syndrome does not meet.
5. Disturbance of a bite meets only at a syndrome Nunan.
6. The stenosis of a pulmonary trunk characteristic of patients with a syndrome Nunan not inherent to Sherishevsky-Turner's syndrome.
7. At Nnun's syndrome, in difference from Sherishevsky-Turner's syndrome, the normal karyotype comes to light.
8. Cases of identification of a syndrome Nunan often family that is not characteristic of Sherishevsky-Turner's syndrome.

Syndrome reasons Nunan:

The disease has autososmno-dominant type of a nsledovaniye. Frequency occurrence among newborns fluctuates from 1:20 000 to 1: 10 000. Men with such syndrome are often infertile owing to anomalies of urinogenital system and therefore the pathological gene is practically always transferred from mother - the gene carrier. The mutated gene of PTPN11 has disturbances in 3, 7 and 13 exons, as Nunan causes development of a syndrome. At the same time the sex chromatin and a karyotype correspond to a sex of the sick child.

Treatment of the Syndrome Nunan:

If Nunan to find a syndrome at an early stage, then risk manifestation of possible complications, it is possible to prevent or to reduce considerably.
As this syndrome is genetically caused, treatment is carried out symptomatic.
At a cryptorchism operational treatment - bringing down of a small egg in a scrotum is shown; depending on the level of sex hormones treatment by androgens with a substitution fir-tree is shown.
Accumulation of excess liquid in various parts of a body can become dangerous manifestation of a syndrome, liquid can sometimes gather around heart and lungs. If it occurs, drainage of a cavity for the purpose of exudate removal is necessary. In case of development of a renal failure carrying out a hemodialysis is shown.

People who have a genetic predisposition to development of a syndrome Nunan have to get surely advice of specialists and carry out genetic analyses before they want to have children. However it is necessary to consider that there is a risk spontaneous a disease razivitiya. Today there is no known way to prevent development of this disease. At some people symptoms can have moderate character therefore they can not know that they are sick. They can understand it much later, for example, only after the child's birth. If Nunan to find a syndrome at an early stage, then risk manifestation of possible complications, such as heart troubles, it is possible to reduce considerably.