A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

Objective: Deficit of the testosterone converting enzyme 17-beta-hydroxysteroid dehydrogenase (17beta-HSD) has been shown to be responsible for male pseudohermaphroditism (MPH). We analysed the gene encoding 17beta-HSD type 3 (17beta-HSD3) in a patient with MPH.

Methods: We studied a 46, XY new-born diagnosed as having MPH.

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.

The Y chromosome gene SRY plays an important role in normal male sexual development and is thought to be the testis-determining factor. We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in a mosaic manner, by their father. This mutation, consisting of a C to T transition in position 1 of codon 97 of SRY, results in a truncated peptide with an incomplete DNA-binding domain.

Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome.

Objective: The aim of this study was the endocrinological, enzymatic, and genetic evaluation of a family with a complex syndrome associating hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis and renal malformation.

Design: Hypothalamic-pituitary-testicular function, olfaction, steroid sulphatase activity, and morphological renal studies were assessed. DNA molecular analyses were carried out in all the patients.

Oral dexamethasone administration: new pharmacological test for the assessment of growth hormone secretion.

Acute intravenous (i.v.) dexamethasone administration has been described recently as a new test for the diagnosis of growth hormone (GH) deficiency.

[Other indications for growth hormone treatment: chronic kidney failure and Turner's syndrome].

Recently, it has been demonstrated that treatment with growth hormone (GH) can accelerate height velocity in children with chronic renal insufficiency (CRI), after kidney transplantation and in Turner syndrome. The pathogenesis of growth retardation in CRI is complex. Possibly the most important factor involved is the presence of peripheral resistance to insulin-like growth factors.

[Diabetic ketoacidosis: results with two different patterns of insulin administration (author's transl)].

The response to insulin treatment in 15 children with diabetic ketoacidosis is studied. Insulin continous infusion was administered to nine patients. The other six patients received insulin subcutaneously except one half of the first dose injected by vein as a bolus.

[Stimulation of growth hormone (HGH) secretion by physical exercise (author's transl)].

Authors study forty eight children with severe lineal growth retardation. The more frequent causes of a stunted growth were ruled out previously (systemic and chronic diseases, metabolic disorders, genetic alterations, etc.).

[Infantile cushing's disease with paradoxical response to dexamethasona due to a probable periodic hormogenesis (author's transl)].

A case of Cushing's disease in a ten year old girl with bilateral diffuse hyperplasia of the adrenal cortex and postoperative enlargment of the sella turcica is presented. The administration of dexamethasone elicited a paradoxical response with a clear elevation of the already high excretion of 17-hydroxycorticoids. The possible mechanisms for this previously described, but infrequent, response to dexamethasone are discussed.

[Virilizing adrenal carcinoma (author's transl)].

A case of virilizing adrenal carcinoma, diagnosed in the first year of age, is presented. The difficulties of differential diagnosis with congenital adrenal hyperplasia are briefly discressed. There is not evidence of metastasis 15 months after complete surgical excision of the tumor and repeated detreminations of 17-CO and 17-OH have remained within normal limits.

[Hereditary acute tyrosinemia. a case report (author's trnasl)].

A three month old infant with hepatic cirrhosis of rapid instauration is presented. Diagnosis of acute tyrosinemia was suspected by clinical data and confirmed by the quantitiative determination of plasma amino acids and the peculiar histological characteristics of hepatic cirrhosis. Authors review briefly the pathogenesis, symptoms and treatment of the disease.