The Genetic Basis of Delayed Puberty [PDF]
Frontiers in Endocrinology, 2019 Delayed pubertal onset has many etiologies, but on average two-thirds of patients presenting with late puberty have self-limited (or constitutional) delayed puberty. Self-limited delayed puberty often has a strong familial basis.
Sasha R. Howard
doaj +2 more sources
Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report [PDF]
Journal of the ASEAN Federation of Endocrine Societies, 2020 A 26-year-old lady presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome.
Yee Lin Lee, Luke Toh, Fabian Yap
doaj +2 more sources
From biological marker to clinical application: the role of anti-Müllerian hormone for delayed puberty and idiopathic non-obstructive azoospermia in males [PDF]
Endocrine ConnectionsAnti-Müllerian hormone (AMH), a biomarker secreted by Sertoli cells in the testes, has emerged as a critical indicator of male reproductive function with significant clinical application potential.
Yuanyuan Zeng +3 more
doaj +2 more sources
Unraveling Delayed Puberty: A Rare Case of Congenital Hypogonadotropic Hypogonadism Masked by Celiac Disease and Plummer–Vinson Syndrome [PDF]
Clinical Case ReportsCongenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results in delayed puberty and infertility due to impaired secretion of gonadotropin‐releasing hormone (GnRH).
Osama Ahmad +7 more
doaj +2 more sources
Clinical challenge: When is delayed puberty more than a "late bloomer"? [PDF]
J Pediatr Nurs, 2023 Dwyer AA.
europepmc +3 more sources
Genetic, epigenetic and enviromental influencing factors on the regulation of precocious and delayed puberty. [PDF]
Front Endocrinol (Lausanne), 2022 Faienza MF +5 more
europepmc +3 more sources
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. [PDF]
Mol Genet Genomic Med, 2021 Sassi A +7 more
europepmc +3 more sources
Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism [PDF]
JCRPEInsulin-like growth factor-1 (IGF-1) is the main driver of growth during prenatal life and acts through IGF-1 receptor (IGF1R). Patients with IGF1R defects exhibit variable phenotypic features.
Nur Berna Çelik +6 more
doaj +2 more sources
Journal of Clinical Endocrinology & Metabolism, 1996 Delayed puberty can be defined as the absence of any signs of puberty in subjects that have attained an age at the upper limit (+2DS) for the onset of puberty, that means 13 years in girls and 14 years in boys. The causes of delayed puberty can be classified into three groups, functional temporary impairment in gonadotropin and sex steroid secretion ...
ANTONIAZZI, Franco +2 more
openaire +5 more sources
DeckerMed Family Medicine, 2020 Although common, delayed puberty can be distressing to patients and families. Careful assessment is necessary to ensure appropriate physical and social development in patients that require intervention to reach pubertal milestones and achieve optimal growth.
Jessica Schmitt, Paul Boepple
+4 more sources