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M Santisteban

Publications and source records attributed to M Santisteban.

5 recordsLinked to original sources

[Transient neonatal hyperthyroidism in the child of a treated hyperthyroid mother. Subsequent appearance of sexual precocity].

We report a newborn female with neonatal hyperthyroidism, born to a mother with Graves disease treated with potassium iodide and carbimazole. At four months she had some breast development, a bone age advance of one year, and elevated levels of FSH and estradiol. Later on the prolactin level was also raised, while LH and TSH values continued low. Posteriorly, irregular cutaneous pigmentation, brown in colour, was evident on the neck and trunk, and a McCune-Albright syndrome was suspected. The relationship between these conditions and treatment of them is discussed.

Carbimazole

[HLA haplotypes in congenital adrenal hyperplasia (21-hydroxylase deficiency].

In order to study HLA haplotypes in congenital adrenal hyperplasia secondary to 21 hydroxylase (21-OH) deficiency, HLA typing was performed in Three families with six affected members. HLA genotypes revealed that in family number 1, two of the three affected members with CAH 21-OH presented salt-losing syndrome and were genotypically identical for HLA A1, B15/A32, Bw35. Family number 2 had two affected members with CAH 21-OH and salt-losing and they were genotypically identical for HLA A11, Bw51/A29, B12. In family number 3, only one of three members presented CAH 21-OH without salt-losing and was HLA homozygous A29, B12/A29, B12; the other two family members were heterozygous with genotype HLA A2, B37/A29, B12. The study suggests that haplotype HLA A29, B12 is related to CAH 21-OH with or without salt-losing syndrome.

Adrenal Hyperplasia, Congenital

[Coma].

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