Overview.
Obesity reproductive incompetence syndrome is common in young children and school-age boys, and is characterized by obesity, hypoplasia of sex organs, and enuresis. Most of them are caused by hypothalamic pituitary tumors or its adjacent parts, encephalitis, traumatic brain injury and other etiological factors, and hypothalamic lesions are the most important cause of this syndrome.
Etiology
Pituitary tumor, craniopharyngioma compression of the hypothalamus is one of the common causes, with the hypothalamus part of the tumor or inflammation as the most common cause, encephalitis, meningitis, intracranial tuberculosis, craniocerebral trauma can also be caused. In some patients, even after many kinds of examinations and even pathological autopsy, no organic lesions can be found, which may be primary hypothalamic-pituitary dysfunction.
Symptoms
The symptoms are more common in boys. Obesity is usually moderate, most of them appear rapidly in a short period of time, and its distribution is not uniform, with the breast, lower abdomen and waist, and near the external genitalia being particularly significant, showing a female type. The face and limbs are relatively thin, and the fingers and toes appear thin and pointed.
Sexual dysgenesis or hypogonadism is the obvious clinical feature. Boys often have a small penis, scrotum and testicles, often with cryptorchidism, no external genital development at puberty, lack of beard, pubic hair and axillary hair, short stature, thin tone, delicate skin, and feminized breasts. In girls, the breasts are unusually large but the mammary glands are atrophic, the internal and external genitalia are underdeveloped and infantile, and there is no or delayed onset of menstruation and secondary sexual characteristics. Those who develop the disease in adulthood have a gradual decline in secondary sexual characteristics, low sexual function and loss of reproductive capacity.
Both sexes have delayed bone age, and sometimes urolithiasis occurs. Hyperphagia, lethargy and laziness are also common.
Symptoms of increased intracranial pressure, such as nausea, vomiting, headache, visual disturbances, changes in the optic disc, and blindness, may also be present from the primary disease.
Examination
1. Laboratory examination
(1) Hormone test: urine gonadotropin concentration and sex hormone concentration are decreased.
(2) Glucose tolerance test often shows decreased glucose tolerance.
(3) Pathologic examination of testicular biopsy reveals obvious atrophy of the seminiferous tubules, interstitial fibrosis, and absence of mature spermatozoa, all of which are helpful for diagnosis.
(4) Chromosomal examination shows no chromosomal abnormality.
2. Other examinations
(1) CT and other examinations can find occupying lesions.
(2) Funduscopic examination may show papilledema of the optic nerve.
(3) Cranial X-ray examination shows damage and calcification of the pterygoid saddle. In patients with optic nerve crossing glioma, in addition to obesity reproductive incompetence, X-ray examination shows signs of enlargement of the optic nerve foramen.
Diagnosis
The diagnosis of this syndrome is mainly based on the three characteristics of primary disease, obesity, and sexual development. It is slightly difficult to diagnose those without primary disease, and the disease should be considered if there is obesity in the lower half of the body.
Treatment
Tumor cases should be treated with surgical removal or deep radiation. If there is no primary pathology to be found, sex hormone preparations or thyroid powder (tablets) can be tried. Gonadal endocrine therapy should be avoided in young children to prevent disruption of their possible endocrine function. Half of the patients can be expected to begin sexual development in adulthood. In older children with a high degree of hypogonadism, chorionic gonadotropin (chorionic gonadotropin) may be used to promote gonadal growth in combination with testosterone propionate (testosterone propionate) to promote the development of secondary sexual characteristics, at doses and for a period of time depending on the condition.
Prognosis
The prognosis of this syndrome depends on the nature of the primary disease and the timing of surgical eradication.