Androgen Insensitivity Syndrome (AIS) and its heterogeneous phenotypes comprise the pieces of a challenging clinical problem. The lack of standardized guidelines results in controversies regarding the proper diagnostic and therapeutic approach, including the time and type of intervention. Due to its variable phenotype, AIS is not diagnosed at the proper age that would allow optimal psychological and medical support to the patient. Therapeutic approaches are not established, mainly due to the rarity of the disease. In addition, various social and ethical consequences may emerge. The aim of this double case report is to outline the difficulties that may rise during diagnostic, therapeutic, and psychological approach of AIS, especially concerning the handling of the relatives' reaction.

Congenital isolated growth hormone deficiency (IGHD) type 1b is an autosomal recessive genetic condition caused by mutations of growth hormone (GH)-1 or the growth hormone releasing hormone receptor (GHRH-R) genes. Affected subjects present with symptoms of growth hormone deficiency (GHD) with low but detectable levels of growth hormone (GH), short stature and responsiveness to GH therapy. We describe a 13-month old girl with severe growth failure who showed a low GH response to two GH provocation tests and a modest increase of insulin-like growth factor-1 (IGF-1) to an IGF-1 generation test. Whole exome sequencing revealed a novel homozygous variant of the GHRH-R gene (c.97C>T), leading to a premature stop codon. Administration of recombinant human GH improved linear growth. This is the first report of a c.97C>T mutation of the GHRH-R gene.

Background: Type 1 diabetes mellitus (T1DM) is the most common endocrine and metabolic disorder in children. On the other hand, little is known regarding the health of parents whose children suffer from T1DM.Aim: The study aims to investigate the mental resilience and physical health of parents of children with type 1 diabetes.Methods: The sample consisted of 80 parents of children and adolescents with T1DM.The study was conducted with the contribution of associations of parents of children with type 1 diabetes in a large hospital in Northern Greece between April 2021 and September 2021. A demographic and clinical questionnaire, the Wagnild and Young Resilience Scale-14 (RS-14), and the General Health 28 Physical Health Measurement Questionnaire (GHQ-28) were used to collect the research data.Results: Of the parents, 18.8% were male while 65% were female. The mean age of the parents was 44.02±6.71 years while the age of their children with diabetes was 13.13±6.05 years. Almost half of the children followed intensive insulin treatment (47.5%) whereas 22,5% reported that their children received insulin via a pump. A higher percentage of parents reported measuring their children's blood sugar more than six times a day (46,3%) and having their glycated hemoglobin (HbA1c) levels checked four times a year (51.2%). Finally, statistically significant effects on the physical symptoms and severe depression of parents of children with type 1 diabetes were observed.Conclusions: Additional research is needed to assess the Greek parent population's resilience and physical health. This study will help healthcare providers to expand their knowledge and meet parents' needs.