ABSTRACT Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype – phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.

SUMMARY Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS −3.7) and bone age of 6 years. Clonidine and combined pituitary stimulation tests revealed GH deficiency. Pituitary MRI was normal. The patient was successfully treated with rGH. Surprisingly, at 10.8 years, his bone age had advanced to 13 years, but physical exam, LH and testosterone levels remained prepubertal. An ACTH stimulation test disclosed a non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency explaining the bone age advancement and, therefore, treatment with cortisone acetate was added. The genetic diagnosis of a homozygous mutation in GHRHR (p.Leu144His), a homozygous CYP21A2 mutation (p.Val282Leu) and CYP21A1P pseudogene duplication was established by Sanger sequencing, MLPA and whole-exome sequencing. We report the unusual clinical presentation of a patient born to consanguineous parents with two recessive endocrine diseases: non-classic congenital adrenal hyperplasia modifying the classical GH deficiency phenotype. We used a method of paired read mapping aided by neighbouring mis-matches to overcome the challenges of exome-sequencing in the presence of a pseudogene.

Connectors used in electrical power distribution systems should allow the passage of electricity continuously and without interruption. However, this does not always occur due to failure caused by improper assembly and/or corrosion of the materials employed, which reflects the quality of service. Notable among the new detection technologies that have been studied to facilitate the identification of defects is the use of thermochromic materials, which allow the easy identification of "hot spots", without the need for specialized equipment and personnel. In this context, in this study, the performance of a thermochromic liquid crystal was evaluated with the aim of developing a temperature sensor for connectors used in electrical power distribution networks. For the evaluation of the performance, thermal and ultraviolet radiation degradation tests were conducted, as well as analysis using spectroscopic (FTIR, FTIR-HATR, UV-Vis, 1H NMR) and thermal (DSC, PLM) techniques. The results indicated that the liquid crystal and the associated components showed no degradation under the test conditions, as well as a good color stability was observed, verifying the viability of the use of these materials for the construction of a temperature sensor. A field test was performed with the devices and was effective for the suggested application.