[Associated abnormalities in the VACTERL syndrome--case report with autopsy findings]. / Assoziierte Missbildungen bei einem VACTERL-Syndrom--Fallbericht mit Obduktionsbefunden.

We report on a male newborn with a VACTERL-association. Our patient had the characteristics of the syndrome: vertebral defects, anal atresia, cardiac anomalies, tracheal stenosis and radial dysplasia. In addition to this combination of malformations we have found a left pulmonary artery sling, cholecystaplasia and biliary dysplasia-not previously reported. Etiology, embryology, coincidence and differential diagnosis are discussed.

Diminished prolactin response to thyrotropin and insulin in anorexia nervosa.

Although patients with anorexia nervosa (AN) have a variety of endocrine disturbances, it generally is believed that the PRL response to stimulation is not altered in this disorder. We measured basal serum PRL values and serum PRL values after stimulation either with TRH (200 micrograms/m2) or with insulin (4 IU/m2) in 27 women with AN and 9 normal women. Basal values in anorexic women and normal women did not differ significantly, whereas all stimulation variables (mean PRL stimulation values, maximum PRL values, sum of increments, and area under the stimulation curve) were significantly lower in AN patients than in normal women. Furthermore, after TRH stimulation most of these variables correlated positively with the percentage of ideal body wt of the patients, indicating that the diminished PRL response was wt dependent. This diminished PRL response in the patients may accompany starvation and low estradiol values. Both conditions per se are known for their association with diminished PRL responses. Hence, no hypothesis which posits hypothalamic dopamine excess as the basic disturbance in AN seems justified. Moreover, diminished PRL responses in AN are not consistent with an assumption of hypothalamic dopamine depletion in this disorder.

Hemophilia and thrombocytopenia in a patient with impaired cellular immunity. A case report.

ITP in hemophiliacs may produce severe bleeding complications. We here report on an eight-year-old boy suffering from severe hemophilia A, who developed ITP and an acquired impaired immune function similar to AIDS. Steroid therapy reverted the thrombocyte count to normal, however it had to be discontinued because of a severe Cushing syndrome. The thrombocytopenia also responded to IgG-therapy and the patient is treated with a long term schedule according to Imbach. It is of interest that the impaired T-helper/T-suppressor cell ratio (0.45) improved to a value of 1.0 after initiation of this therapeutic regimen. We conclude from our observation that i.v. immunoglobulin therapy is of particular value for the treatment of ITP in patients with impaired cellular immunity.

Fall in nocturnal serum melatonin during prepuberty and pubescence.

Morning (7:30 AM to 10:00 AM) and nighttime (11:00 PM to 1:00 AM) serum melatonin concentrations were measured in 89 children, adolescents, and young adults. Morning levels (generally 0-20 pg/ml) did not change with sexual maturation or with age. Nighttime levels decreased significantly both with sexual maturation and with age. Nighttime serum melatonin fell from 195 +/- 24 pg/ml (mean +/- SEM) in prepubertal children younger than 7 years of age, to 119 +/- 23 pg/ml in prepubertal children aged 7 years or older, to 49 +/- 4 pg/ml in young adults (puberty stage V). Similarly, nocturnal serum melatonin levels fell from 210 +/- 35 pg/ml in the youngest age group (ages 1-5) to 133 +/- 17 in children aged 5-11 years and to 46 +/- 4 in young adults. Nocturnal plasma concentrations of luteinising hormone measured at various stages of puberty tended to vary inversely with those of melatonin (r = -0.35). Past difficulties in demonstrating a relation between gonadal maturation and human pineal function may have reflected the use of insufficiently sensitive or specific melatonin assays, or serum sampling only during daytime, or the initiation of sample collection when subjects were already too old.

[Effect of intranasal administration of an LH-RH analog on basal gonadotropin concentrations and stimulation in patients with hypogonadotropic hypogonadism]. / Einfluss eines pernasal angewandten LH-RH-Analogons auf basale Gonadotropinkonzentrationen sowie deren Stimulierbarkeit bei Patienten mit hypogonadotropem Hypogonadismus.

The effect of intranasal administration of the LHRH analogue D-Leu-6-des Gly-10 NH2EA on gonadotropin (Gn) stimulation was studied in 8 juvenile patients with ascertained hypogonadotropic hypogonadism, due to multiple pituitary deficiencies (MPD) in 5 cases and the Prader-Willi syndrome (PWS) in the remaining 3 patients. A bolus LHRH test was performed before and after a treatment period lasting between 2 and 5 weeks. In 2 MPD patients there was a transient rise in basal LH concentrations and a slight improvement in the second LHRH test; hence a hypothalamic lesion is assumed. In the other MPD patients there was no change in Gn stimulation. The sex steroid levels remained low. Gn stimulation was improved in all 3 patients with PWS after LHRH administration and in one 19-year-old boy the onset of puberty was probably induced by this therapy. However, after continuous administration of the analogue the initially increased Gn levels decreased again. In view of this inhibiting action on Gn levels the LHRH analogue does not appear suitable for the long-term treatment of hypogonadotropic hypogonadism.

[Hormonal findings in children with central manifestations of Recklinghausen's neurofibromatosis]. / Hormonelle Befunde bei Kindern mit zentraler Manifestation einer Neurofibromatose Recklinghausen.

Hormone parameters were evaluated in 14 children with cerebral manifestation of N.R. to find a possible involvement of the hypothalamo-pituitary axis. In addition to growth hormone and prolactin stimulation, tests of gonadotropic, thyreotropic and adrenocorticotropic function were performed. 6 patients had insufficient growth hormone secretory capacity, and 6 times an increased prolactin-stimulation was found; in one patient ACTH-reserve was diminished. A brain tumour was found in 5 of these 8 patients with impaired hormone results; however, in 3 cases pathologic results were found only after operation.

[A thermodynamic model to predict oxygen consumption and peripheral blood flow of the newborn infant (author's transl)]. / Ein thermodynamisches Modell zur Beurteilung des Sauerstoffverbrauches und des peripheren Blutflusses beim Neugeborenen.

The continuous evaluation of the oxygen consumption and peripheral blood flow is technically difficult and practically not feasible in the newborn infant. We attempted to assess these two variables by means of a thermodynamic model, where only a set of geometrical variables and a set of temperatures have to be measured. The body is represented by a central cylinder (head, trunk) and a peripheral cylinder (extremities) and the heat flux therein is described by mathematical formulas. Only steady state conditions are considered. From the heat flux "surface leads to environment" the oxygen consumption and from the heat flux "central cylinder leads to peripheral cylinder" the peripheral blood flow is derived. On the patient only one core temperature (rectum) and two skin temperatures--one on the chest and the other one on the calf--have to be measured. The validity of the model was tested in 17 healthy newborns (body weight 1,100-3,850 g) and 6 diseased newborns (body weight 1,500-3,400 g). Comparing the computed oxygen consumption to values from the literature for a similar group showed good agreement. In 7 newborns the calculated oxygen consumption correlated well (r = 0.88, p less than 0.01) with the directly and synchroneously measured oxygen consumption. Indirect proof that the model also gives a reasonable index for the peripheral blood flow was obtained by relating the computed peripheral blood flow a) to values from the literature for a similar group and b) by demonstrating the dependence of the (calculated) peripheral blood flow on the haematocrit (r = -0.58, p less than 0.01).