acid-phosphatase and Growth-Disorders

We aim to characterize patients with Gomez-López-Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Single-nucleotide polymorphism (SNP) array and whole-exome sequencing were undertaken; magnetic resonance imaging was performed in 12 patients, including high-resolution, heavily T2-weighted sequences (HRT2) in 6 patients to analyze the trigeminal nerves. All patients presented alopecia; two did not present rhombencephalosynapsis (RES); trigeminal anesthesia was present in 5 of the 11 patients (45.4%); brachycephaly/brachyturricephaly and mid-face retrusion were found in 84.6 and 92.3% of the patients, respectively. One patient had intellectual disability. HRT2 sequences showed trigeminal nerve hypoplasia in four of the six patients; all four had clinical signs of trigeminal anesthesia. No common candidate gene was found to explain GLHS phenotype. RES does not seem to be an obligatory finding in respect of GLHS diagnosis. We propose that a diagnosis of GLHS should be considered in patients with at least two of the following criteria: focal non-scarring alopecia, rhombencephalosynapsis, craniofacial anomalies (brachyturrycephaly, brachycephaly or mid-face retrusion), trigeminal anesthesia or anatomic abnormalities of the trigeminal nerve. Studies focusing on germline whole genome sequencing or DNA and/or RNA sequencing of the alopecia tissue may be the next step for the better understanding of GLHS etiology.

Topics: Abnormalities, Multiple; Acid Phosphatase; Adolescent; Adult; Alopecia; Brazil; Cerebellum; Child; Child, Preschool; Craniofacial Abnormalities; Exome Sequencing; Female; Growth Disorders; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Neurocutaneous Syndromes; Phenotype; Polymorphism, Single Nucleotide; Rhombencephalon; Trigeminal Nerve; Young Adult

The effects of 'normal' genetic variability of signal transduction on endocrine function may be more evident during stimulation tests than is observed in basal states, thereby contributing to a greater understanding of the possible role of signal transduction genetics in the pathogenesis of endocrine disorders. In the present study, we have studied the outcome of growth hormone (GH) stimulation testing by insulin in growth-retarded children in relation to the genotype of ACP1 (acid phosphatase locus 1; also referred to as cLMWPTP, cytosolic low molecular weight phosphotyrosine phosphatase). ACP1 is an enzyme, expressed as two distinct isoforms designated F and S, that down-regulates insulin receptor signal transduction and which shows a genetic polymorphism with strong quantitative enzymatic differences among genotypes. In this study, we examined 116 growth-retarded children of which 101 were genotyped for ACP1. We found that the basal level of GH is higher in ACP1 genotypes with low concentrations of the S isoform than in genotypes with high S isoform concentrations (P<0.02). Additionally, during GH stimulation with insulin, the genotypes with low S isoform concentrations were found to perform better (P<0.005) and to react more promptly than the genotypes with high S isoform concentrations (P<0.05). These findings suggest that high S isoform ACP1 activity slows down the effect of insulin, resulting in a retardation of its metabolic effect.

Topics: Acid Phosphatase; Adrenergic alpha-Agonists; Child; Clonidine; Female; Genotype; Growth Disorders; Growth Hormone; Humans; Insulin; Isoenzymes; Male; Receptor, Insulin; Signal Transduction; Stimulation, Chemical

In a prospective study we investigated the changes of lipoprotein metabolism under therapy with high doses of oestrogens or androgens, applied to stop the excessive growth of very tall girls or boys. Therapy with 2 mg ethinyl oestradiol sulfonate per week for one year in 11 girls resulted in an increase in serum triglycerides, which was reversible after cessation, and a minimal rise of total cholesterol and HDL-cholesterol in the phase of adaptation to this treatment. Therapy with 1000 mg testosterone oenanthate per month for one year lead to a fall of triglycerides and HDL-cholesterol. These changes are considered as a regulative phenomenon, without consequences for the application of the high dosage therapy with these steroid hormones in the treatment of excessive growth.

Topics: Acid Phosphatase; Alanine Transaminase; Alkaline Phosphatase; Aspartate Aminotransferases; Body Height; Child; Cholesterol, HDL; Cholesterol, LDL; Drug Combinations; Ethinyl Estradiol; Female; Growth Disorders; Humans; Lipoproteins; Liver Function Tests; Male; Norethindrone; Prospective Studies; Puberty; Testosterone; Triglycerides

Topics: Acid Phosphatase; Adolescent; Child; Child, Preschool; Growth Disorders; Humans; Male; Puberty, Precocious

A new case of ring chromosome 2 is described and compared with the five cases hitherto reported. The clinical picture includes a severe pre- and postnatal growth failure, microcephaly, psychomotor retardation, and some minor dysmorphic features. Cytogenetic studies revealed a ring 2 structure and aneuploidy. Banding analysis failed to demonstrate a substantial loss of chromosomal material. Enzymologic studies revealed a decrease of red cell acid phosphatase activity suggesting the localization of its gene inthe 2p25 leads to 2 pter region.

Topics: Acid Phosphatase; Aneuploidy; Child, Preschool; Chromosome Mapping; Chromosomes, Human, 1-3; Erythrocytes; Female; Growth Disorders; Humans; Karyotyping; Microcephaly; Psychomotor Disorders

Topics: Acid Phosphatase; Animal Nutritional Physiological Phenomena; Animals; Cathepsins; Chickens; Deficiency Diseases; Enzyme Precursors; Female; Fibroblasts; Growth Disorders; Histocytochemistry; Liver; Lysosomes; Macrophages; Male; Muscle Development; Pancreas; Selenium; Species Specificity