Results 91 to 100 of about 278,652 (177)
Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report
ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid +4 more
wiley +1 more source
HYPOGONADOTROPIC HYPOGONADISM (REVIEW)
The review is dedicated to the problem of hypogonadotropic hypogonadism. Modern ideas of the stages of normal sexual development of girls, etiology and pathogenesis of constitutional arrest of sexual development and hypogonadotropic hypogonadism are ...
E.V. Uvarova, E.V. Trifonova
core +1 more source
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Cases of Hypogonadotropic Hypogonadism: A Single-Center Experience
Background: Delayed puberty (DP) affects approximately 2% of adolescents. In most patients of both genders, delayed puberty is due to constitutional delay in growth and puberty (CDGP); it is a self-limiting condition starting later than usual during ...
HUSSEINI, ABBAS ALI +4 more
core +1 more source
Reversal of idiopathic hypogonadotropic hypogonadism
Background: Idiopathic hypogonadotropic hypogonadism, which may be associated with anosmia (the Kallmann syndrome) or with a normal sense of smell, is a treatable form of male infertility caused by a congenital defect in the secretion or action of ...
Pearce SH +11 more
core +4 more sources
Interplay Between Infectious Diseases and the Endocrine System: An Overview and Clinical Insights
Infectious diseases can disrupt endocrine homeostasis through direct cytopathic injury, autoimmune dysregulation, or pathogen‐derived hormone‐like effects. Viruses and bacteria are the most frequent agents, whereas fungi and parasites contribute less commonly, even remaining clinically relevant, especially in the immunocompromised population.
Francesco Capoccia +4 more
wiley +1 more source
Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist +4 more
wiley +1 more source
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome [PDF]
\ua9 2020 Xu et al.; Published by Cold Spring Harbor Laboratory Press.Biallelic pathogenic variants in RAB3GAP2 cause Warburg Micro syndrome (WARBM) and Martsolf syndrome (MS), two rare, phenotypically overlapping disorders characterized by congenital ...
Balasubramanian R +6 more
core +2 more sources
Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies
ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley +1 more source
Syndrome of hypogonadism in males [PDF]
Hypogonadism in men - a clinical and laboratory syndrome caused by decreased secretion of testosterone by the testes. Depending on the level of destruction of the hypothalamic-pituitary-gonadal axis we distinguish two main forms of hypogonadism ...
core +1 more source

