Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency

Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency. \ud \ud Objective: The aim of the study was to describe the clinical and biochemical characteristics of ORD during puberty. \ud \ud Design: Clinical, biochemical, and genetic assessment of seven ORD patients (five females, two males) presenting during puberty was conducted. \ud \ud Results: Predominant findings in females were incomplete pubertal development (four of five) and large ovarian cysts (five of five) prone to spontaneous rupture, in some only resolving after combined treatment with estrogen/progestin, GnRH superagonists, and glucocorticoids. Pubertal development in the two boys was more mildly affected, with some spontaneous progression. Urinary steroid profiling revealed combined CYP17A1 and CYP21A2 deficiencies indicative of ORD in all patients; all but one failed to mount an appropriate cortisol response to ACTH stimulation indicative of adrenal insufficiency. Diagnosis of ORD was confirmed by direct sequencing, demonstrating disease-causing POR mutations. \ud \ud Conclusion: Delayed and disordered puberty can be the first sign leading to a diagnosis of ORD. Appropriate testosterone production during puberty in affected boys but manifest primary hypogonadism in girls with ORD may indicate that testicular steroidogenesis is less dependent on POR than adrenal and ovarian steroidogenesis. Ovarian cysts in pubertal girls may be driven not only by high gonadotropins but possibly also by impaired CYP51A1-mediated production of meiosis-activating sterols due to mutant POR

EFFECT OF MEDIA FAMILY ON THE PRECOCIOUS PUBERTY OF TEENAGE GIRL: THE EMPHASIS ON IRANIAN SOCIETY

The main purpose of this paper is study of role and impact of media family on precocious puberty: physically, intellectually, emotionally and socially. This article also seek, how media can have a negative aspects in critical age for teenagers. Paper, relying on the literature of sociology in relation to family and socialization and put the base on theory of George Herbert Mead. The theoretical frame of this study is borrowed from School of symbolic interaction and regarding to self . Delphi is methodology used in this article, among behaviors and opinions of girls in this age group. These negative aspects disturb the natural balance of growth and changes the behavior patterns. It also cause anxiety , violence, deviation of individual and low normative legitimacy of paint materials and tendency for relaxation .It can be noted that ,all affected product are results of using various media especially the false advertising

From Grade Schooler to Great Star: Childhood Development and the “Golden Age” in the World of Japanese Soccer

This chapter, by Elise Edwards, explores how, in its quest for success in the men’s FIFA World Cup, the Japan Football Association encourages parents to enroll preschoolers in its kids’ program to increase the number of children playing soccer and the quality of their training, emphasizes the importance of physical activity and play for children, and promotes the notion of a golden age between the ages of nine and twelve when the opportunity for physical development is said to peak. This popularizes a vision of a segmented childhood determined by age grades and developmental stages underpinned by a fear that Japanese children are in physical and psychological danger if they do not exercise correctly, with grave consequences for the Japanese state. Outdoor play and sport are essential for strengthening the national body, just as they were during World War II. The repetition and discipline required of soccer hopefuls mirrors the much-criticized educational system, which emphasizes excessive discipline and excessive competition and tethers childhood potential to adulthood success

Detours on the Road to Maturity: A View of the Legal Conception of Growing up and Letting Go

Presents an historical examination of how law has shaped, constrained, and reflected the social role of youth in America. Part 1 surveys the period 1607-1870, part 2 covers the period 1870-1920, and part 3 views the contemporary scene