March 2022 - 14 articles
PBX1 is required for the differentiation of early progenitor cells into fetal Leydig cells in the mouse testis. From embryonic life to puberty, PBX1 is present in peritubular myoid cells (PMC, green line) and in interstitial cells, which includes progenitor and immature Leydig cells from the fetal (FLC, purple line) and adult (ALC, blue line) populations. PBX1 is absent from terminally differentiated FLC and ALC. In adults, PBX1 is found almost exclusively in Sertoli cells (SC, red line). The presence of PBX1 in different somatic cell populations during testicular development further supports a direct role for this transcription factor in testis cell differentiation and in male reproductive function. The yellow and blue areas represent fetal and post-natal life, respectively. View this paper
In this review, we describe genetic mutations affecting metabolic pathways of calcium and phosphorus homeostasis. Calcium and phosphorus homeostasis has tight hormonal regulation by three major hormones: vitamin D, parathyroid hormone (PTH) and fibro...
Background: Peroxiredoxin 4 (PRDX4), a secreted antioxidant enzyme, can protect against hepatocellular carcinoma and lung adenocarcinoma, but its role in papillary thyroid carcinoma (PTC) is still unclear. In this study, we investigated the associati...
Premenstrual syndrome (PMS) and premenstrual dysphoric disorder (PMDD) encompass a variety of symptoms that occur during the luteal phase of the menstrual cycle and impair daily life activities and relationships. Depending on the type and severity of...
Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children. Knowledge of normal glucose homeostasis allows for...
Two endocrine disorders, congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH), when untreated, can have devastating, irreversible and fatal outcomes. Permanent cognitive impairment, growth failure and dysmorphic appearance are seen...
The relationship between varicocele and hypogonadism becomes clearer everyday thanks to the most recent literature, particularly with regards to the impact of varicocele repair on serum testosterone level improvement in hypogonadal patients. We selec...
Chromosome 15q26-qter deletion syndrome is a rare disease that causes prenatal and postnatal growth retardation, microcephaly, developmental delay, and congenital heart diseases, mainly due to haploinsufficiency of IGF1R. In addition, patients with p...
Multiple endocrine neoplasia (MEN) is a group of heterogenous syndromes characterized by the occurrence of two or more endocrine gland tumors in a patient or related individuals in the same family. They are inherited in an autosomal dominant fashion...
According to current guidelines, growth hormone (GH) therapy is strongly recommended in children and adolescents with GH deficiency (GHD) in order to accelerate growth rate and attain normal adult height. The diagnosis of GHD requires demonstration o...
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