[Aggravation of salt loss due to hydrocortisone in the first days of treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]. / Aggravation de la perte sodée par l'hydrocortisone dans les premiers jours du traitement de l'hyperplasie surrénale congénitale par déficit en 21 - hydroxylase.

The longitudinal study of five infants affected with congenital hyperplasia (CAH) due to 21-hydroxylase deficiency illustrate the aggravation of the salt losing syndrome during the initial period of replacement therapy with hydrocortisone alone, associated or not with salt supplementation as demonstrated by weight loss or failure to thrive, hyponatremia and rise in plasma renin activity. Concomitantly, the plasma levels of both ACTH and aldosterone decreased monkedly. The sodium loss was rapidly normalized following the association of small doses (25 gamma/day) of 9 alpha fluorohydrocortisone to the same glucocorticoid replacement dosage. Initial treatment of infants affected with CAH should therefore include both mineral and glucocorticoid hormones.

[A case of leprechaunism]. / A propos d'un cas de lepréchaunisme.

The authors report the case of an term infant weighing 2,860 kgs, who presented with failure to thrive during the two first months of life. Clinical features suggested the diagnosis of leprechaunism. After a review of the literature, the authors conclude that the diagnosis of this rare condition is essentially a clinical one, as there are no specific laboratory tests.

[XY pure gonadal dysgenesis. Two cases report (author's transl)]. / Dysgénésie gonadique pure XY. A propos de deux observations.

Two cases of XY dysgenesis are reported. In one case, that of a 13 year-old girl presenting with impuberism, a gonadoblastoma was detected by histologic examination of the streak. In the second case, that of a 6 month-old girl, short stature and dysplasia of the nails suggested the diagnosis.

[Oculocraniosomatic neuromuscular disease]. / Maladie neuromusculaire oculo-cranio-somatique.

A child with a myopathy that started in the pelvic girdle, non-obstructive cardiomyopathy and retinitis pigmentosa is described. There was a progressive neurological deterioration with external ophthalmoplegia and ptosis. The clinical course could be predicted from the appearance of the muscle biopsy.

[Combined test for assessment of anterior pituitary function using glucagon-propranolol, TRH and LHRH (author's transl)]. / Test combiné d'exploration fonctionnelle anté-hypophysaire utilisant le glucagon-propranolol, la TRH et la LHRH.

Combined Glucagon-Propranolol test used for study of growth hormone is advantages. The combined administration of TRH and LHRH is possible. In 53 children, the hormone responses (GH, TSH, FSH, LH and prolactin) were studied. This combined test allows the rapid assessment of anterior pituitary function.

[Septo-optic dysplasia with antidiuretic hormone deficiency and central adrenocortical insufficiency. Three cases report in infants (author's transl)]. / La dysplasie septo-optique avec déficit en hormone antidiurétique et insuffisance surrénale centrale. Trois nouvelles observations chez le nourrisson.

Three cases of septo-optic dysplasia are related in infants. A neurogenic diabetes insipidus and an central adrenocortical insufficiency is proved. An growth hormone deficiency is founded in one case. The other anterior pituitary functions are normal. The pneumo-encephalography with congenital absence of septum lucidum and the ophtalmologic anomalies are typical. The treatment is envisaged. In one case an autopsy sustains the radiologic aspect.

[The deficiency of 17-hydroxylase: a cause of growth and puberty retardation in the girl. One case]. / Le déficit en 17-hydroxylase: une cause de croissance et puberté retardées chez la fille. A propos d'une observation.

A case of 17-hydroxylase deficiency in a 14 years old girl is reported. She presented with the unique association of hypertension, hypokaliemia, delayed puberty and growth failure. It is suggested that the reduced statural growth starting between 7 and 10 years of age and accompanied by a markedly reduced bone maturation was, at least in part, the consequence of the absence of adrenarche. The secretion rate of cortisol was very low while an increased production of D.O.C. and corticosterone was demonstrated by the elevated levels of their urinary tetrahydroderivatives. A good feminisation and a growth spurt were observed under ethinyl oestradiol substitutive therapy. A progressive normalization of the kaliemia and the blood pressure was obtained with hydrocortisone treatment but long term hydrocortisone therapy appears less satisfactory with easy clinical manifestations of overdosage on the one hand and incomplete maintenance of normal blood pressure of the other hand.