ABSTRACT
Mutations in the 17beta-hydroxysteroid dehydrogenase (17beta-HSD) type 3 gene are associated with the clinical findings of 17beta-HSD deficiency. We investigated 5 patients of German descent with 46,XY karyotype and predominantly female phenotype. Androstenedione (A) and testosterone (T) levels in serum were determined before and after stimulation with human chorionic gonadotropin. DNA analysis of the whole coding region of the 17beta-HSD type 3 gene was performed by PCR, single-strand conformation analysis, and direct sequencing. In all patients we found highly variable A and T levels before and after stimulation. However, the A-to-T ratio was abnormal in all cases suggestive of 17beta-HSD deficiency. Molecular genetic analysis revealed mutations in all patients. We conclude that A and T levels may be highly variable in patients with 17beta-HSD deficiency. Molecular genetic analysis of the 17beta-HSD gene may support the diagnosis of this disorder.
Subject(s)
17-Hydroxysteroid Dehydrogenases/deficiency , 17-Hydroxysteroid Dehydrogenases/genetics , Disorders of Sex Development/enzymology , Disorders of Sex Development/genetics , Amino Acid Sequence , Androstenedione/blood , Base Sequence , Child , Child, Preschool , Chorionic Gonadotropin , DNA/genetics , Female , Humans , Infant, Newborn , Male , Molecular Biology , Mutation , Phenotype , Sequence Homology, Amino Acid , Testosterone/bloodABSTRACT
Resistance to TSH (RTSH) is a recently described syndrome of reduced sensitivity to TSH that manifests as euthyroid hyperthyrotropinemia. It is usually identified at birth during routine neonatal screening for congenital hypothyroidism. In less than 2 yr, 13 subjects with RTSH belonging to 8 families have been reported, and all were shown to harbor mutations in the TSH receptor (TSHR) gene. We now report the occurrence of RTSH in 3 unrelated families. Contrary to previous reports, the inheritance of RTSH in 2 of the families was dominant rather than recessive and was not associated with abnormalities in the TSHR gene. Abnormalities in the TSHR gene were excluded by sequencing all coding sequences, exon/intron junctions, and the promoter region of the gene. Furthermore, the involvement of the TSHR in the manifestation of the RTSH phenotype was excluded in 2 families by linkage analysis using intragenic polymorphic markers. We excluded defects in the TSH beta-subunit by sequencing its gene and by showing that the circulating TSH in affected subjects from all families had normal bioactivity. Also, no abnormalities were found in the Gs alpha gene of one family analyzed by GC-clamped denaturing gradient gel electrophoresis. This study shows that RTSH may be a manifestation of several different genetic defects that requires the exploration of other candidate genes involved in the TSH-TSHR-Gs alpha cascade and genes participating in its regulation.
Subject(s)
Mutation/physiology , Receptors, Thyrotropin/genetics , Thyrotropin/genetics , Thyrotropin/physiology , Adult , Base Sequence , Child , Drug Resistance/genetics , Endocrine Glands/physiopathology , Female , GTP-Binding Proteins/genetics , Genetic Linkage , Haplotypes , Humans , Infant, Newborn , Male , Pedigree , Phenotype , Thyroid Gland/physiopathologyABSTRACT
Three new observations of trisomy 8 mosaicism are presented. In two postnatal cases, both patients showed agenesis of corpus callosum associated with different clinical findings. In a third case, the prenatal diagnosis revealed trisomy 8 mosaicism exclusively in chorionic villi (CV) cells long term culture. Normal results were obtained in CV direct preparation and in cultured amniotic cells. In lymphocytes, the child showed low level trisomy 8 mosaicism. The only clinical findings were deep palmar and plantar furrows. The present cases as well as reports in the literature indicate that the variation in tissular repartition of normal and trisomic clones in trisomy 8 mosaicism is possibly responsible for the missing correlation between cytogenetic findings and clinical severity in this syndrome.
Subject(s)
Chromosomes, Human, Pair 8 , Mosaicism , Trisomy , Child, Preschool , Chorionic Villi Sampling , Clone Cells , Humans , Infant, Newborn , Karyotyping , Male , Phenotype , Reference ValuesABSTRACT
Conservation of tap water kept in soft plastic bags and stocked at different temperatures (20, 37 and 55 degrees C) and its health incidences were studied over one year by samples taken at regular intervals. Pollutants generated were studied by investigating the consequences of the choice of the plastic and of the aseptic agent used at different temperatures versus the length of the period of contact. Microbiological, chemical, and physico-chemical characteristics reported here showed the existence of an exchange between the contents and the container. The presence of two toxic substances indicates that one should be careful when using inadequate material. This is a matter to think about without further speculation.
Subject(s)
Environmental Health , Fresh Water , Metals , Plastics , Water Pollutants, Chemical/analysis , Humans , Risk FactorsABSTRACT
2 case reports regarding patients with a psychosocial dwarfism. Both children showed clinical and endocrinological signs of "idiopathic" hypopituitarism. Both patients came from economically well situated families of the upper middle-class. Disturbances in eating and sleeping behaviour are important hints that there might be a psychosocial etiology.
Subject(s)
Dwarfism, Pituitary/psychology , Growth Hormone/deficiency , Psychophysiologic Disorders/psychology , Psychosocial Deprivation , Adolescent , Child , Child, Preschool , Diagnosis, Differential , Dwarfism, Pituitary/diagnosis , Female , Follow-Up Studies , Humans , Male , Psychophysiologic Disorders/diagnosisABSTRACT
Observation of skin lesions due to M. marinum in patients who frequent the same swimming pool, led to a survey of the water of this swimming pool. The mycobacterial analysis was completed by a microbiological and chemical examination. M. marinum, M. kansasii and M. fortuitum were isolated. There was no correlation between the presence of Mycobacteria and microbiological indicators; but it was found a relation between the residual chlorine concentration and the presence of opportunistic Mycobacteria. The contamination could be proceed from water filling the pool, or from swimmers.
Subject(s)
Mycobacterium/isolation & purification , Swimming Pools , Water MicrobiologyABSTRACT
An investigation carried out by French Ministration of Agriculture (S.R.A.E.L.) has worked out an inventory and defined the nitrate amount evolution in waters, specially originated with underground formations, stared out by collectivities. The investigation spreading has brought about some ascertainment in Lorraine country. Particularly, the "Laboratoire d'hygiène et de recherche en santé publique" has so identified in a commune near Nancy, where nitrate amounts in water are particularly high, gastrointestinal troubles probably caused by minor methemoglobinemias which water supply origin have not been locally suspected. This note so shows that medical and paramedical corps cooperation with administrative authorities charged with water resource can attempt some interventions: better diagnosis, population and mayors information, search of technical and administrative settlements according to local environment.
