Results 71 to 80 of about 160,231 (306)

True precocious puberty following treatment of a Leydig cell tumour: two case reports and literature review

open access: yesFrontiers in Pediatrics, 2015
Leydig cell testicular tumours are a rare cause of precocious pseudopuberty in boys. Surgery is the main therapy and shows good overall prognosis. The physical signs of precocious puberty are expected to disappear shortly after surgical removal of the ...
Alberto eVerrotti   +5 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Application of PRECEDE PROCEED Model to Promote Lifestyle for Deaf andMute Girls AT Puberty [PDF]

open access: yesHelwan International Journal for Nursing Research and Practice
Background: Puberty is an important period of deaf and mute life girls associated with marked physical, emotional and psychological changes. Aim of study: was to assessment the perception of pubertal deaf and mute girl’s regarding puberty and healthy ...
Manal Abd Elhalim
doaj   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

Disorders of puberty

open access: yes, 2017
Puberty is the process of development of adult secondary sexual characteristics. Disorders of puberty can be classified into early (precocious) and late (delayed) puberty.

core   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Puberty and Epilepsy Onset in Women

open access: yes
Objective: The significance of the onset of seizure based on the medical and social aspects of epilepsy. The aim of this study was to investigate the age of seizure onset based on the specific characteristics of each age of seizure onset in many epilepsy
Galina Odintsova, Nina Dengina
core   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

open access: yesThe Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose   +2 more
wiley   +1 more source

UNLOCKING THE SECRETS OF PUBERTY ONSET: IS HYPOTHALAMIC LIPID-SENSING A KEY METABOLIC REGULATOR?

open access: yesIBRO Neuroscience Reports, 2023
Elvira Rodríguez Vázquez   +7 more
doaj   +1 more source

Early puberty: a review on its role as a risk factor for metabolic and mental disorders

open access: yesFrontiers in Pediatrics
Accumulating evidence indicates that there is a trend of early puberty onset in humans. The early timing of puberty has raised concerns due to its association with significant negative health outcomes.
Yukun Sun   +6 more
doaj   +1 more source

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