Growth deficiency with high circulating growth hormone levels: the insulin stimulation test in 39 children.

Thirty nine patients with abnormal high basal hGH levels were selected and analysed as a part of a retrospective study of the results of 1,500 insulin stimulation tests (IST), applied in children and adolescents with growth deficiency. Their height, weight, and bone age were lower than their corresponding chronological age. Both in girls and in boys groups, responders and nonresponders subgroups were detected as judging by the results of the secretagogue action of insulin on hGH. The hGH basal levels were 43.88 +/- 18.27 microU/ml (X +/- SD) in boys (no = 22) and 56.61 +/- 35.21 microU/ml in girls (no = 17). It is to be noted that the hGH nonresponder group had deeper hypoglycemia at 30 minutes post-insulin injection than the responder group: 53.6 +/- 13.0 mg/100 ml (X +/- SD) vs 66.0 +/- 11.5 mg/100 ml respectively (p less than 0.01). Two siblings, a girl and a boy, had the highest basal and stimulated hGH, either during the IST or starvation. One of them, the boy, during the starvation test, had a paradoxical fall of about two orders of magnitude of the serum hGH 4 hr after basal sample collection. These two siblings are similar to the familial Laron type dwarfism. The possible mechanisms of growth deficiency in children with constant high but variable hGH values are discussed, as well as the aspects concerning the therapeutic ways to improve their linear growth.

Morphotypic aspects in the cryptorchidic child.

The morphotype of 40 children with cryptorchidism (18 bilateral, 22 unilateral), selected by complex endocrine examination, was assessed in relation to age and clinical form of cryptorchidism. The morphotype was established on the basis of 9 anthropometric parameters (weight, stature, pube-ground distance, a-a, thr-thr, thoracic, abdominal, hips and cephalic circumferences). The malformed lot consists of 28 children with common and 12 with symptome cryptorchidism (5 adiposogenital, 3 male Turner's syndrome and 3 with gonadal dysgenesis). In the child with symptom cryptorchidism, the morphogram reveals, irrespective of age, a morphotype which corresponds in point of absolute dimensions and proportions, to the somatotype in which cryptorchidism as a symptome is included. The child with common cryptorchidism has irrespective of age, a normal or short stature and is underweight. Compared to the stature, the head is small, the lower limbs are short, the trunk is long and the hips are well developed. In our series of common cryptorchid child, the most marked statural deficit was found between 11 and 15 years as well as under the age of 6.

Dermatoglyphics in thyroid cancer.

Digito-palmar dermatoglyphics in 93 subjects with thyroid cancer (34 males, 59 females) of which 87.1% had folliculo-papillar adenocarcinoma were studied qualitatively and quantitatively. The findings were compared to the dermatoglyphics of 100 males and 100 females from the clinically healthy autochthonous population. The thyroid cancer subjects had a lower total digital ridge count (TDRC) and a reduced number of papillar ridges between the a-d triradii, than the control subjects. The A line showed a more marked transversality in cancer males and a more marked obliquity in cancer females. Qualitative examination showed more patterns in the second interdigital area and a higher incidence of typical and atypical form of sulcus transversus in the cancer group as against the controls. Qualitative and quantitative variations in dermatoglyphics were found with respect to the relation between the anatomo-pathologic form and the A, B, or O blood group. However, this variation is not conclusive enough to support the hypothesis of an association between dermatoglyphics and the blood groups in the A, B, O system on the one hand, and dermatoglyphics and the anatomo-pathologic form of thyroid cancer, on the other.

Dermatoglyphics in the virilizing polycystic ovary syndrome.

Quantitative and qualitative characteristics (form and orientation of the digital patterns, total digital ridges count, delta index, form and regional distribution of palmar patterns, palmar flexion creases, palmar delta index, atd angle, the direction of the A, B, C, and D palmar lines and the number of crests between the a, b, c, and d triradii) of digito-palmar dermatoglyphics in 33 women with virilizing polycystic ovary (VPO) were studied. The selection was made on the basis of the clinical examination and a complex bio-hormonal exploration of female patients with pilar virilism hospitalized in or treated at the outpatient clinic of the "C. I Parhon" Institute of Endocrinology between 1975 and 1984. The control lot was made up of 100 females and 100 males, clinically healthy, originally from various rural and urban areas in Romania. It was found that the VPO women come within the range of variability of the normal, with some dermatoglyphic peculiarities characteristic of the VPO syndrome; i.e., a lower total digital ridges count, and fewer ridges between the triradii at the basis of the fingers. Qualitatively, there is a preponderance of the loop-like digital patterns, especially those with radial orientation and palmar, compared to the normal, the VPO women present more frequently patterns in the interdigital space II. Palmar flexion lines indicate in VPO women a higher incidence of palmar transversal sulcus variants as compared to normal women. The existence of similar dermatoglyphic peculiarities both in VPO and in adrenogenital syndrome supports the hypothesis that the ovarian hormonogenesis disorders in the VPO syndrome may be genetically determined through an enzymatic defect.

Somatotype of children with gonadal dysgenesis and structural anomalies of genitalia.

The somatotype of 92 children with sexual structural anomalies of whom 28 with female Turner's syndrome, 22 with Klinefelter's syndrome, 20 with adreno-genital syndrome, 14 with hypospadias, 2 with Reinfenstein's syndrome and 6 with feminizing testis was established on the basis of biometric and genetically determined morphologic characteristics (dermatoglyphics, pigment complex). A morphogram utilizing 12 anthropometric and 5 dermatoglyphic parameters was constructed; it can be used in phenotypical differentiation of the anatomo-clinical variants of structural anomalies of the genitalia and gonads. The 12 anthropometric parameters were: weight, stature, height of the head + neck segment, the sternum-symphysis distance, length of arms and legs, the biacromial and bitrochanterian diameters, the circumference of the thorax, abdomen, hips and head. The dermatoglyphic parameters were: the digital delta index, TFRC, a-b ridge count, the ATD angle and the A line obliquity. For longitudinal assessment of the phenotype of children with structural anomalies of genitalia and gonads, the authors propose utilization of the percentile diagrams regarding weight, stature, pubes to floor distance, and the biacromial and bitrochanterian diameters.

A case of long arm deletion of the X-chromosome in a patient with Turner syndrome.

The work presents the clinical and cytogenetic findings in a 16 year-old female-patient with Turnerian phenotype and 46 XX, del(X)(q 13 leads to q ter) caryotype. The authors discuss the difficulties of correlating the caryotype to the phenotype in X chromosome structural aberation cases.

[Craniofacial dysostosis with diaphyseal hyperplasia]. / Syndrome de dysostose cranio-faciale avec hyperplasie diaphysaire.

The only family known so far to have developed cranio-facial dysostose, has been the object of a new study. Since 1962, 3 new infants affected by this disease were born and another 3 died. The syndrome is characterized by an important growth deficit, small cranium with thin skull bone, a peculiar facies with marked hypoplasia of the middle portion and mandible, multiple and various teeth anomalies. The long bones are short and bent; thickening of the cortex occurred during puberty or in the post-puberal period and seems to increase with age. The mean life-span seems normal. The syndrome is transmitted in an autosomal dominant way with great penetrating force.

A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.

We reported an apparently previously undescribed syndrome, designated the coxoauricular syndrome, in a mother and her 3 daughters, all of whom shared in variable manner shortness of stature, minor vertebral and pelvic changes, dislocated hip(s), and microtia with corresponding hearing loss. The oldest daughter had coincidental Ullrich-Turner syndrome with 46, Xdel(X)(q 13) chromosome constitution. Inheritance of the trait in this family is dominant, either autosomal or X-linked, with hemizygote lethality.

Somatotyping in the obese children and adolescents.

Age-related somatic variability studied by 15 anthropometric parameters was assessed in 278 subjects (138 boys and 140 girls) aged between 5 and 20 years. Of these, 30% had simple obesity, 10.0% obesity associated with hypothyroidism, 10.0% obesity with diabetes, 25% obesity with adrenocortical reaction, 23.5% functional adiposo-genital syndrome and 1.5% Cushing's syndrome. The peculiarities related to the somatic development as a whole, the degree of bone development, and adiposity are interpreted in the main clinical forms of obesity, on the basis of the morphogram.

Evolution of endemic goiter in the Valea Jiului area after 30 years of iodine prophylaxis.

After 30 years of iodine prophylaxis the incidence of goiter in the Valea Jiului area was reassessed. A number of 7,892 pupils aged 7-16 years were examined, of whom goiter was found in 32%. Before iodine prophylaxis started the incidence was 91.8%. The present survey shows that the small-sized goiters markedly prevail over middle-sized ones, while large-sized goiters became extinct. The diffuse to nodular goiter ratio changed by the disappearance of the nodular forms. The neurologic and psychic complications in goiter-bearing children disappeared. Attempts to correlate taste sensitivity to thiocarbamide with goiter failed. Examination of the digito-palmar dermatoglyphics showed a greater incidence of the higher atd angle, with transition forms of sulcus palmaris.

Modifications of dermatoglyphics in thyreopathy.

Examination of the digito-palmar and plantar dermatoglyphics of 50 thyreopathic women revealed no statistically significant variations depending on the clinical form of thyreopathy, for the quantitative aspects of digito-palmar and plantar dermatoglyphics. Qualitative determatoglyphic differences were found (reoccurrence of the patterns on areas of the palm and plant) according to the clinical form of thyreopathy. These differences are more obvious in Graves's disease patients which may support the idea of a hereditary factor implied in the disease.