A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. The SRY sequence was analysed by both the single-strand conformational polymorphism assay and direct DNA sequencing of products from the polymerase chain reaction. A double nucleotide substitution was identified at codon 18 of the conserved HMG box motif, causing an arginine to asparagine amino acid substitution. The altered residue is situated in the high mobility group (HMG)-related box of the SRY protein, a potential DNA-binding domain. Since the mutation abolishes one HhaI recognition site, the results were confirmed by HhaI restriction mapping. No other mutations were found in the remaining regions of the gene. The corresponding DNA region from the patient's brother was analysed and found to be normal. We conclude that the SRY mutation in the reported XY female occurred de novo and is associated with sex reversal.

"Sex passport" obligation for female athletes. Consideration and criticisms on 364 subjects.

In Ancient Greece determination of sex was made by direct observation of the all-male athletes participating in the Olympic Games. In 1966 the International Olympic Committee (I.O.C.) established that female athletes must submit to a complete physical examination before each international competition. In 1968 they further established that each female participant be granted a "Sex Passport" based upon the findings of a medical and gynaecological examination as well as chromosomal sex determination. The authors, whose department has been responsible for granting Sex Passports for more than 20 years, examined 364 female athletes aged 16 to 29 years using I.O.C. criteria. They found three chromatic-negative cases (0.8%). The present work indicates several scientific shortcomings of the current I.O.C. examination criteria, illustrates three chromatin-negative cases, their consequences and proposed a return to original criteria for examination except in doubtful cases.

Trisomy 9 mosaicism syndrome. A case report and review of the literature.

The authors report on a case of trisomy 9 mosaicism syndrome, a rare chromosome abnormality. The common features of this syndrome are growth and mental retardation, low-set malformed ears, wide sutures and fontanelles, bulbous nose, short palpebral fissures, micrognathia, microphthalmia and enophthalmos, abnormal hands and feet, hip dislocation, joint limitation, cardiovascular defects and urogenital abnormalities. Our patient presented some unusual characteristics, such as 13 pairs of ribs, a vertebral malformation, a hemivertebra and a Dandy-Walker syndrome. They compare their clinical findings with the few cases previously described and they try to contribute to the further clinical definition of the syndrome. It is possible that there is a correlation between the variability of the phenotype and the percentage of trisomic cells in the patient.

The hepatic malignant mesenchymoma: a case report.

We report a case of hepatic mesenchymoma in an 8-year-old girl who presented with abdominal pain and ultrasonographic diagnosis of hepatic echinococcosis. Due to the good general condition of the patient and the diagnostic confirmation of liver hydatid disease by the CT scan, antiparasitic therapy with albendazole was started. After 1 month of therapy the girl's general condition worsened as did the ultrasonographic picture. On laparatomy a large cystic mass was observed within the right hepatic lobe and was removed. Pathological examination of the mass excluded an echinococcal cyst and demonstrated a malignant hepatic mesenchymoma.

[A clinical and cytogenetic study of 50 women with Turner's syndrome. Considerations of the problem of pregnancies in these patients. Part 2]. / Studio clinico e citogenetico di 50 donne con sindrome di Turner. Considerazioni sul problema delle gravidanze in queste pazienti. Seconda comunicazione.

The results of a study on 50 patients with Turner syndrome, all of them older than 14 years and never treated, are reported. In order to correlate karyotypes and clinical manifestations of the syndrome, we performed a complete physical examination and ultra sonographic tests of the heart, kidneys, uterus and ovaries. We found a better spontaneous growth and sexual maturation in mosaic 45.X/46.XX patients than in patients with 45.X and X structural anomalies. No differences were found in heart and kidney congenital anomalies between groups of patients with different karyotypes. We conclude that the presence of an XX-line has an ameliorating effect on height and gonadal function of patients with Turner syndrome.

[Benign recurrent intrahepatic cholestasis. Description of a clinical case]. / Colestasi intraepatica ricorrente benigna. Descrizione di un caso clinico.

We present the clinical case of an 8 years old boy affected by episodes of severe recurrent jaundice, preceded by intense itching with clinical and biochemical signs of cholestasis, diagnosed as benign recurrent intrahepatic cholestasis (B.R.I.C.), or Summerskill's syndrome. This was first described by this author in 1959. The syndrome appears as a rare form of cholestatic jaundice of unknown pathogenesis, which in 80% of cases shows up before the age of 20. Its clinical characteristics are episodes of severe jaundice preceded by intense itching with biochemical signs of cholestasis which rise with no apparent cause and which recover spontaneously and are intervalled by asymptomatic periods which last months or years. During this time there is also a regression of the chemical and histological evidence of cholestasis. The diagnosis of B.R.I.C. can be made after having excluded the other congenital or acquired causes of intrahepatic cholestasis according to the recurrent character of the jaundice and to the hepatic biopsy.

[Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report]. / La sindrome di Turner. Analisi citogenetica di 165 pazienti con S. di Turner. Prima comunicazione.

Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present. We also found 5 pregnancies in 2 patients: only 2 daughters were born and alive, the first was normal and the second presented the same karyotype and clinical picture of her mother.

Bilateral rhabdomyomatous tumor relapsed as typical triphasic Wilms' tumor.

The authors report on a child affected with bilateral renal tumor, which was treated with cancer chemotherapy before and after surgery. Twenty-eight months after the discontinuance of therapy, a neoplasm was disclosed in the left kidney and then removed. Histologically, the bilateral tumor excised by the first surgery could be classified as biphasic Wilms' tumor, rhabdomyomatous variant, whereas the neoplasm removed by the second surgery was the typical triphasic Wilms' tumor. The authors suggest that preoperative chemotherapy might have played a role in the histologic changes of the initial tumor. Nonetheless, it is also tempting to postulate that the two histologic variants of Wilms' tumor could have occurred in the patient in spite of any treatment.

Entomophthoromycosis due to Basidiobolus in Somalia.

The clinical picture, histopathology of the lesion, microscopic identification of fungus and treatment of entomophthoromycosis due to Basidiobolus in a seven-year-old boy are described. This is the first case recognized in Somalia and confirms that this condition is common and widely distributed in tropical countries.

Increased chromosomal breakage in epileptic children after long-term treatment.

To investigate the mutagenic effects of antiepileptic drugs (AED), 39 epileptic children treated by long-term monotherapy (10 cases with Pb, 11 with Cbz, 9 with Vpa, 8 with Pht) have been studied. The long-term administration was monitored by measurement of AED serum concentrations by gaschromatography. Metaphase chromosome observations were performed using short time culture of peripheral blood lymphocytes and 100 mitoses from each proband were analyzed. A significant increase of CA in the group of patients with Pb (0.23), Cbz (0.19), Vpa (0.25), Pht (0.18) as compared with those of nine epileptic children without treatment (0.08) has been found. Because unrepaired damage of DNA may act as a possible carcinogenic potential, the shortest possible duration of AED treatment is recommended.

11p13 deletion and reduced RBC catalase in a patient with aniridia, glaucoma and bilateral Wilms' tumor.

A rare case of a one-year-old child with Wilms' tumor, aniridia and glaucoma is described, in whom bone marrow chromosome analysis showed the presence of an interstitial microdeletion on the short arm of chromosome 11, presumably involving the p13 band. Research of the enzyme activity of RBC catalase showed a 40% reduction. This finding is compatible with the loss of the 11p13 band which contains the gene coding this enzyme. 11p13 deletion in Wilms' tumor and 13q interstitial deletion in retinoblastoma provide a rare case of prezygotic chromosome abnormality, which may be considered to have a determinant role in the tumor etiopathogenesis.

Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.

A 21-month-old male infant with 46,XY,r(21) constitution identified by G and R banding is reported. The main clinical features were mental and physical retardation, microcephaly, antimongoloid slant of eyelids, malformed and low set ears. The clinical and cytogenetic findings of previously reported cases of r(21) are reviewed. Clinical resemblance to the eleven cases described in the literature is striking. The assays for superoxide dismutase (SOD-1) activity in the red blood cells from patient and his parents gave normal results. This findings is compatible with the hypothesis that only the segment distal to the SOD-1 locus, i.e. 21q22.2 leads to qter, has been lost during ring formation.

Segregation of an X ring chromosome in two generations.

A 45,X/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the mother developed secondary amenorrhoea at the age of 29, it is suggested that fertility per se may not be affected by deficiencies of the distal part of Xq.