Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be responsible for this disorder in a number of European and Middle Eastern families.

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia. A locus (BSCL1) has been mapped to 9q34 with evidence of heterogeneity.

Exercise capacity and hormonal response in adults with childhood onset growth hormone deficiency during long-term somatropin treatment.

Growth hormone (GH) deficiency in adults in associated with reduced muscular strength and peak oxygen uptake (peak Vo2). How these variables are influenced by long-term somatropin therapy in adults with childhood onset GH-deficiency has not been precisely defined. The effect of somatropin treatment in 20 childhood onset GH-deficient adults on muscular strength, maximal exercise capacity, and hormonal response to exercise were therefore examined in a double-blind placebo-controlled study with recombinant human GH (rhGH, 12 microg/kg/day) for 6 months, followed by 36 months of open-labeled uninterrupted therapy, after which treatment was stopped for 9 months.

Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group.

Five of the six families with the Berardinelli-Seip syndrome in Norway cluster in six adjacent rural municipalities of south-western Norway. The six patients from this area were born between 1951 and 1973, none between 1974 and 1995. The absence of new cases may be explained by a decrease in the intraregion marriage rate and inbreeding.

Studies of insulin resistance in congenital generalized lipodystrophy.

Two well-characterized patients with congenital, generalized lipodystrophy have been studied by the euglycaemic hyperinsulinaemic clamp technique in combination with indirect calorimetry. Furthermore, glycogen synthase in muscle biopsies was studied in one patient with regard to enzyme activity, immunoreactive protein and mRNA levels. The patients had fasting hyperinsulinaemia, and the rate of total glucose disposal was severely impaired, primarily due to a decreased non-oxidative glucose metabolism.

Generalized lipodystrophy, congenital and acquired (lipoatrophy).

This review is based on longitudinal studies on our seven patients with congenital generalized lipodystrophy, our patient with acquired generalized lipodystrophy, and published papers on these subjects. An inability to store energy in adipose tissue is of pathogenetic importance. In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperinsulinaemia, dyslipidaemia.

[Endocrine disorders in adolescents and young adults].

Evaluation of 158 patients younger than 25 years-of-age who had been hospitalized in a specialized adult endocrine department during an 11 year-period, brought to light specific endocrine problems connected both to pediatrics and internal medicine. There is need for close collaboration between pediatricians, as experts on disturbances in growth and pubertal development, and internists, with experience of diagnosing rare endocrinological disorders. Such collaboration might also improve the follow-up of young patients into adulthood.

Acne in pubertal boys undergoing treatment with androgens.

In the present study, the development of acne lesions was studied in boys deemed to be too tall, for which they were treated with injections of androgens. In a retrospective and a prospective group of pubertal boys, an increased incidence of acne was observed as a consequence of treatment with androgens.

Height reduction in 539 tall girls treated with three different dosages of ethinyloestradiol.

During the period 1970 to 1985, 539 constitutionally tall girls were treated with ethinyloestradiol in varying dosages to reduce final height. They all had a predicted final height above 181 cm (greater than +2.5 SD).

Drugs in the treatment of bulimia nervosa.

The neuro-transmitter serotonin seems to be important in the treatment of disturbed eating behaviour. In Anorexia Nervosa (AN) a serotonin antagonist has been proposed, whereas in Bulimia Nervosa (BN) serotonin agonists have been used with success, e.g.

[Development of acne in systemic androgen therapy in boys during puberty].

Acne is a multifactorial disease. Hereditary factors and the hormonal influences of androgens are important. In this study the development of acne lesions are studied in boys treated with androgens for expected excessive bodily height.

Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome.

A new syndrome in two siblings with primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus is presented. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon and insulin all working through cell membrane receptors were elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients.

Dietary n-3 fatty acids and children with hyperlipidaemia.

A review of the literature shows that no studies on children with primary genetic lipid disorders have been published. Case reports are presented indicating that hyperlipidaemias presenting in children--both familial hypercholestrolaemia and disorders with secondary hyperlipidaemia (triglycerides) may benefit of the intake of n-3 fatty acids.

Infantile autism and urinary excretion of peptides and protein-associated peptide complexes.

Sixty-nine early morning urine samples obtained from three groups of young adult males (autistic, mentally handicapped, and a group of men of normal intelligence) were analyzed using the methods described by Trygstad et al. (1980). No consistent patterns of urinary chromatographic profiles were identified.

Plasma concentrations of vitamin D metabolites in pubertal girls with anorexia nervosa.

Plasma concentrations of 25-hydroxyvitamin D (25-OHD), 1,25-dihydroxyvitamin D (1,25-(OH)2D), 24,25-dihydroxyvitamin D (24,25-(OH)2D) and vitamin D-binding protein (DBP) were measured in 12 pubertal girls (aged 10-18 yr) with anorexia nervosa in relapse. The results were compared with similar data obtained in 81 healthy girls representing all stages of puberty. The patients with anorexia nervosa had significantly lower 1,25-(OH)2D levels (71 vs.

Oestrogen treatment of adolescent tall girls; short term side effects.

In 1980-1985 680 preadolescent tall girls were treated with pharmacological doses of oestrogen to reduce final height. Indications for the therapy were predicted final height greater than +2.5 SD (180.

Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy.

Because cardiomegaly has been observed in lipodystrophic patients we studied cardiac morphology and function with one- and two-dimensional echocardiography in addition to general cardiologic examination in a series of seven patients. Muscular hypertrophy with increased chamber size and myocardial indentations were found. Two patients had asymmetrical septal hypertrophy (ASH), and two patients demonstrated systolic anterior movement (SAM) of the mitral valve.

Spinal deformities in tall girls.

In a prospective study, 62 girls who consulted the paediatric department because of tall stature were examined for spinal deformities. Thirteen cases of scoliosis measuring 10 degrees or more were found. Eighteen girls had a thoracic kyphosis of more than 40 degrees and 11 had additional vertebral abnormalities indicating Scheuermann's disease.

Chromatographic profiles at E-280 nm for urinary precipitates in morbus Rett.

Previously we have observed different characteristic chromatographic ultraviolet absorbancy profiles at 280 nm for urinary protein precipitates from patients with behavioral disorders. The purpose with this study was to look for similar changes in urinary protein excretion from the grossly disabled patients with the Rett syndrome. Benzoic acid precipitates from the urine from 20 patients were chromatographed on a Sephadex G-25 gel column.

Acute in vivo stimulatory effects of human pituitary lipid-mobilizing factor on plasma levels of glucagon and insulin in rabbits.

The lipid-mobilizing factor LMF is prepared from deep-frozen human pituitary glands by alkaline extraction, followed by acetone precipitation at pH 4.8, Sephadex gel filtration and DEAE-cellulose chromatography. In addition to its adipokinetic effect in rabbits, LMF also increased the plasma levels of glucagon and insulin in rabbits in doses of 15 to 100 micrograms.

Somatomedin levels in pregnancy: longitudinal study in healthy subjects and patients with growth hormone deficiency.

Somatomedin (Sm) levels throughout pregnancy were determined in a longitudinal study of four normal women and three patients with GH deficiency by use of the RIA for Sm-A, a newly developed RIA for insulin-like growth factor 2 (IGF-2), and the placenta RRA for Sm-A. In both normal women and those with GH deficiency, there was a continuous rise of immunoreactive Sm-A throughout pregnancy. During the third trimester the levels were 2-fold elevated above the level in nonpregnant age-matched normal subjects.

Chromatographic analysis of urine and dialysate from schizophrenic patients undergoing hemodialysis.

Maladjustments in the central nervous system may result in altered concentrations of neuropeptides in cerebrospinal fluid and urine. Urinary protein-peptide precipitates from psychiatric patients have previously been observed to have different chromatographic profiles with regard to the ultraviolet absorbancy at 280 nm. Hemodialysis has previously been reported to improve some schizophrenic patients and has been recommended in treatment trials.

Childhood psychosis and urinary excretion of peptides and protein-associated peptide complexes.

Twenty-four infantile autistic children were compared with 12 children with other kinds of childhood psychoses, 5 children with so-called minimal brain dysfunction syndrome, 5 children with attention deficit disorder, 14 children with mental retardation, and 19 normal children with regard to chromatographic profiles of urinary products that give ultraviolet absorbency at 280 nm. Six main types of chromatographic patterns emerged. Fifty-four percent of the autistic children and 17% of the children with other psychoses showed a distinct pattern that was not seen in any other cases.