Publications by authors named "J Rohayem"

Context: Congenital hypogonadotropic hypogonadism (CHH) is defined as an isolated deficiency of gonadotropin hormones. Mini-puberty, a transient postnatal activation of the hypothalamic-pituitary-gonadal axis in healthy infants, provides a window of opportunity to diagnose and treat CHH. Currently, in male infants with CHH, testosterone is used to increase phallus size.

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Human chorionic gonadotropin (hCG) has structural similarities with thyroid-stimulating hormone (TSH) and may stimulate TSH receptors at higher concentrations. During pregnancy, placental hCG causes TSH suppression, contributing to hyperemesis. However, in males, clinical manifestations caused by excess hCG are rare.

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Article Synopsis
  • The 46,XX testicular disorder/difference of sex development (DSD) is a rare condition where individuals typically have female chromosomes (46,XX) but display male characteristics, often due to the translocation of a Y chromosome segment to the X chromosome.
  • Researchers conducted extensive genetic analysis on blood samples from individuals with 46,XX DSD and controls to explore the genetic variations and their effects on phenotype.
  • The study revealed distinct categories of translocated Y chromosome segments and identified transcriptional changes linked to phenotypic traits like height and testicular size, enhancing the understanding of the genetic factors involved in 46,XX DSD.
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Article Synopsis
  • The study evaluated a new interdisciplinary education program aimed at children, adolescents, and young adults with differences of sex development (DSD) and their parents, focusing on participant satisfaction.
  • The program included tailored medical information, peer support, and psychological assistance over two days, with satisfaction measured using an adapted ZUF-8 questionnaire, revealing consistently high scores across all age groups and parental participants.
  • The findings suggest that the program was well-received regardless of age or diagnosis, and highlight the need for further analysis on its long-term impact on participants’ well-being and knowledge.
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There are 3 physiological waves of central hypothalamic-pituitary-gonadal (HPG) axis activity over the lifetime. The first occurs during fetal life, the second-termed "mini-puberty"-in the first months after birth, and the third at puberty. After adolescence, the axis remains active all through adulthood.

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