Steroid ll/-hydroxylase (P450cll) deficiency (failure to convert 1 1-deoxycortisol to cortisol) causes less than 10% of cases of congenital adrenal hyperplasia in most populations, but it is relatively frequent in Jews of Moroccan origin. P450cl

Steroid 11 beta-hydroxylase deficiency is relatively frequent in Israel among North African Jews. Over a 39-year period, 38 affected individuals from 25 families were diagnosed. Nineteen families came from Morocco, and in another 2, one parent came from Morocco (80% of all parents). Demographic studies showed that most of their grandparents were born in the region of the Atlas Mountains. In Israel, the overall incidence of the disorder is estimated between 1 in 30,000 to 1 in 40,000 births, but in offspring of Moroccan Jews the ratio is 1 in 5,000 to 1 in 7,000, with an allele frequency of 1 in 70 to 1 in 84 and a carrier frequency of 1 in 35 to 1 in 42. The clinical expression is characterized by a wide range of variability in the signs of androgen and mineralocorticoid excess. Virilization in the female ranged from enlarged clitoris in the mildest forms, to markedly hypertrophied clitoris with penile urethra and fused labial-scrotal folds in the most severe forms. Hypertension causing vascular accidents and death was observed in both severe and mildly virilized patients, whereas masculinized females were sometimes normotensive. Based on historical evidence, the origin of the ancestors, and the onomastic analysis of the families surnames, we propose that the mutation of 11 beta-hydroxylase deficiency in Jews from Morocco may have originated in either the ancient Jewish settlers or the native Berber tribes who lived in the region of the Atlas Mountains in the southern region of Morocco before the destruction of the Second Temple by the Romans, in the year 70 C.E.

Carcinoma within the thyroglossal duct (TGDCa) is a very rare pediatric tumor. This report presents the case of a 15-year-old girl with TGDCa, reviews the previously published pediatric cases of this tumor, and provides diagnostic and therapeutic considerations in TGDCa in children. Twenty one cases of TGDCa have been reported, 12 of them in females. Mean age at presentation was approximately 13 years for females and approximately 12 years for males. The duration of a midcervical mass prior to the diagnosis of TGDCa varied from 3 weeks to 8 years. The size of the neck mass at presentation averaged 2 cm-4 cm. All masses were asymptomatic, and the diagnosis of TGDCa was incidental following surgery. All pediatric cases of TGDCa reported thus far were of the papillary type, except for 3 patients who presented with a mixed papillary-follicular carcinoma. Capsular invasion was detected in 10 (45%) patients. Local invasive disease was found in 5 (23%) patients, but all removed thyroid glands (12) were free of carcinoma. One patient had lung metastases. Thyroidectomy with subsequent radioiodine ablation was the treatment of choice in the majority of the cases. The reported prognosis for TGDCa in children was favorable, with only one reported death.

Documenting the spontaneous growth pattern of children with idiopathic short stature (ISS) should be helpful in evaluating the effects of growth promoting treatments. Growth curves for children with ISS were constructed, based on 229 untreated children (145 boys and 84 girls) from nine European countries. The children were subdivided according to target range and onset of puberty, and the growth of these subgroups was evaluated from standard deviation scores (SDS). At birth, children with ISS were already shorter than normal (means; boys -0.8 SDS, girls -1.3 SDS). Height slowly decreased from -1.7 SDS at the age of 2 years to -2.7 SDS at the age of 16 years in boys and 13 years in girls. Final height was -1.5 SDS in boys and -1.6 SDS in girls (mean (SD): boys 164.8 (6.1) cm, girls 152.7 (5.3) cm)), which was 5-6 cm below their target height. The onset of puberty was delayed (boys 13.8 (1.3) years, girls 12.9 (1.1) years). Subclassification resulted in similar growth curves. These specific growth data may be more suitable for evaluating the effects of growth promoting treatments than population based references.