A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases.

Adolescent↗

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Cerebellar infarction in children.

We report 3 children with posterior circulation strokes. Cerebellar infarction is rare in children; therefore, it was not the clinical diagnosis suspected primarily in 2 of these patients. The diagnostic value and limitations of neuroimaging studies, including computed tomography and magnetic resonance imaging, in cerebellar infarction in children are discussed. Because 3 patients were examined in a 2 year period in one institution, this entity may be more prevalent than generally believed and should be considered in the differential diagnosis of posterior fossa lesions in children.

Adolescent↗

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[Porphyrins,Porphyria, Porphyrinuria].

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Animals↗

PubMedDate not supplied

[Hyperinsulinism in newborns and children].

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Adenoma↗

PubMedDate not supplied

[Evaluation of risks related to human growth hormone (hGH) treatment. Results of an epidemiologic survey conducted in France of patients treated from 1959 to 1985].

Following the notification in the USA and England of four cases of Creutzfeldt-Jacob disease (MCJ) in patients previously treated with hGH, an epidemiological inquiry has been done in France to set up a clinical evaluation of all patients treated from 1959 to 1985. 1698 patients were registered for treatment. Current information (less than three months old) was obtained for 1622 patients (95.5%). Death was reported in 32 patients (2.0%), one is possibly related to a viral infection (malignant lymphoma), but none could be related to MCJ. Accidents were observed in 213 living patients (13.1%). Among them, 4 cases were classified as possibly related to a viral infection: acute lymphoid leukaemia, polyradiculoneuritis associated with hepatitis, acute encephalitis (2 cases). Even though the clinical symptomatology is not consistent with MCJ, a relationship with hGH therapy could not be completely excluded. Finally, six patients undertreatment developed malignancies. During the three last years, the question of side effects of hGH therapy has been raised in the literature two times running: risk of MCJ and risk of leukaemia. Then, the question of the long term vigilance of all treated patients with hGH deficiency should be done.

Creutzfeldt-Jakob Syndrome↗

PubMedDate not supplied

[True precocious puberty in non-tumor hydrocephalus. An analysis of 16 cases].

True precocious puberty occurred in 16 children (15 girls and 1 boy) with non tumoral shunted hydrocephalus at a mean age of 6.8 years. They had mild clinical manifestations of precocious puberty, and the other pituitary functions were found to be normal. Except for one child, precocious puberty did not correlate with raised intracranial pressure or lack of cerebral drainage by the shunt. Growth was the main concern in this group as the predicted height fell at a mean value of 1.7 SD below the parental target height, and even more in children with myelomeningocele. This growth retardation is due to an early progression of bone age observed even prior to the appearance of breast or pubic hair. Therefore we suggest that these children might benefit from early treatment by an LHRH analogue as soon as precocious puberty occurs.

Age Factors↗

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[Precocious puberty caused by a suprasellar arachnoid cyst. Analysis of 6 cases].

The authors report 6 cases (4 girls and 2 boys) with central precocious puberty associated with a suprasellar arachnoid cyst. Precocious puberty is rarely the presenting sign of arachnoid cysts. It was characterized by early onset, patent symptoms and frequent association (3 of 6 cases) with growth hormone deficiency. The latter represents a further risk of short stature. Evolution of precocious puberty varied from one case to another, without any relation with the quality of control of the arachnoid cyst and associated hydrocephalus. Half-yearly follow-up of height and bone age allowed for deciding a suppressive treatment of precocious puberty and a substitutive growth hormone therapy when needed.

Body Height↗

PubMedDate not supplied

[Endocrine sequela of radiation treatment of extracranial head and neck tumors].

A study of the thyroid and hypothalamo-pituitary functions was undertaken in 14 children having been irradiated for tumors of the neck and head. The following anomalies were found: S.T.H. deficiency: 8 cases, A.C.T.H. deficiency: 2 cases, T.S.H. deficiency: 4 cases, primary thyroid insufficiency: 4 cases. Growth was severely impaired since the height of 10 out of 14 patients was less than or equal to 2 S.D. These results emphasize the frequency of endocrine lesions related to radiotherapy, as the lesions were essentially extracranial. They also show a repercussion on growth, which worsen the long-term prognosis of these diseases.

Adolescent↗

PubMedDate not supplied