Torben Iversen

X-LINKED CONGENITAL ADRENAL HYPOPLASIA A Study of Five Generations of a Greenlandic Family

ABSTRACT. In a Greenlandic family comprising 171 descendants in 5 generations, 11 boys had died with a clinical picture of adrenocortical insufficiency within three weeks of birth. Three treated male patients, who survived, were closely studied. The adrenal glands could not be identified by computed tomography. The clinical picture and biochemical studies were consistent with congenital adrenal hypoplasia. The pedigree indicates X‐linked recessive inheritance. The pubertal development was delayed in two patients aged 14 years. LHRH stimulation yielded a significant rise in LH and FSH in at least one of the patients, adrenal androgen values were very low. A family instruction programme has been set up.

Albright's syndrome; a brief survey and report of a case in a seven-year-old girl.

Following a brief survey of Albrights syndrome, a case in a 7‐year‐old girl is reported. The patient had had café‐au‐lait‐coloured pigmentations since the first weeks of life. Vaginal bleeding lasting up to four days occurred at the ages of 7 days, 6 months and 5 years. Pubic hair and enlargement of the breasts were absent. Roentgenograms revealed typical changes in the base of the skull and the extremital bones, particularly on the right side. Histologically, the affected bone tissue showed signs of fibrous dysplasia of bone.

The Danish Pediatric Society

of testosterone was 32 pglday, which is within the normal range of adolescents. In this case gonadarche had already set in but not adrenarche. The opposite situation is exemplified by a 16-year-old boy who exhibited definite secondary sex characters in combination with eunuchoid height. In this case the 17-ketosteroids were 4.9 mg/day, which is within tho lower range of the normal for the age in question. The testosterone secretion was 5 pg/day, which corresponds to the prepubertal level. Thus, adrenarche had taken place whilst gonadarche had not yet begun.

X-linked inheritance of congenital cortisol and aldosterone insufficiency (adrenal hypoplasia)

Congenital adrenal hypoplasia is a rare cause of adrenocortical insufficiency in infancy. Two different modes of inheritance, sex-linked and autosomal, have been suggested. Three male infants with severe clinical signs developed within the first week of life are described. Biochemical data indicated both glucocorticoid and mineralocorticoid insufficiency. Clinical remission followed substitution therapy. The infants descend from the same Greenlandic family. Informations concerning 82 family members in five generations were obtained. Fourteen male infants had a clinical picture suggesting adrenocortical insufficiency, and died in early infancy. No female was affected. The pedigree of the family demonstrated no father-to-son transmission. The pedigree indicated an x-linked transmission of the adrenal hypoplasia gene locus; the locus seems to originate from the great-great-grand mother.

DANISH PEDIATRIC SOCIETY

A case of acute oliguric glomerulonephritis in an infant aged four months was described. The presenting symptoms were afebrile seizures after an illness of approximately ten days with uncharacteristic symptoms. Initially, because acute encephalitis was SUSpected, the patient was briefly treated with corti2osteroids. When the diagnosis of acute glomerulonephritis was established, the patient was treated with restricted fluid administration and peritoneal dialysis. During dialysis, the condition improved considerably and the seizures ceased. A few days later, the diuresis occurred and the uremia disappeared. The infant could be discharged six weeks later with minimal proteinuria, serum creatinine of 0.5 mg/100 ml and a systolic blood pressure of 90 mm. The treatment administered was discussed and it was concluded that, in acute oliguric glomerulonephritis, there are good indications for dialysis whereas the indications for steroid treatment are not yet firmly established.

Osteogenesis Imperfecta Associated with Ehlers‐Danlos Syndrome: Addendum A New Syndrome

In our report of a case of osteogenesis’ imperfect’a associated with EhlersDanlos syndrome in a I-year-old boy (Acta Pzdiut., 33: 379-286, 1955) we concluded that the case might be interpreted as a particularly profound mesodermal malformation. After the publication of our paper we have received a reprint of a Russian paper (“On Fibrodysplasia” by M. F. Maretskaja & L. A. Isajeva, Pediatrija (Moscow), 1: 51-56, 1951) which deals with the same subject. The paper contains three case records, two of which are completely analogous to our case. This makes it unquestionable that the coexistence of the two conditions is not due to chance, but that we are confronted with a new syndrome. As the paper is in Russian and has no summary in another language, a summary of two of the Russian case reports is given below.