Publications by authors named "Larisa Naugolni"

Ovarian dysgenesis (OD), an XX disorder of sex development, presents with primary amenorrhea, hypergonadotrophic hypogonadism, and infertility. In an Ashkenazi Jewish patient with OD, whole exome sequencing identified compound heterozygous frameshifts in FIGNL1, a DNA damage response (DDR) gene: c.189del and c.

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Objective: A nonclassic form of 11β-hydroxylase deficiency (NC11β-OHD) has been reported to cause mild androgen excess symptoms. Currently, the gold standard for biochemical diagnosis is elevated 11-deoxycortisol (11-DOC) levels after corticotropin stimulation test (ACTHstimT). However, there are no clear 11-DOC level cutoffs.

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Article Synopsis
  • The study aimed to assess the incidence and causes of primary ovarian insufficiency (POI) among young women in Israel, highlighting the need for updated data since previous records were decades old.
  • Data were gathered from pediatric endocrinology units for females under 21 diagnosed with POI between 2000-2016, excluding iatrogenic cases, with POI defined by prolonged absence of menstruation and high follicle-stimulating hormone levels.
  • Results showed that among 130 cases, the most common causes of POI were Turner syndrome (43%), idiopathic (27%), and other factors (30%), with a notable increase in diagnoses of non-Turner POI in the last decade despite a stable rate of Turner syndrome cases
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Purpose: The use of soy products is common in young children with cow milk allergy (CMA). The aim was to examine prospectively the association between infantile consumption of soy-based formula, growth parameters and early pubertal signs, in comparison to cow milk-based formula.

Methods: A nested case-control study was conducted, selected from a cohort of infants prospectively followed from birth until the age of 3 years for eating habits and the development of IgE-mediated CMA.

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Background: Bone maturation is currently assessed by subjective and automated radiography.

Objectives: To evaluate the concordance and reproducibility of a quantitative ultrasound (QUS) based device versus X-ray based methods.

Methods: The study population comprised 150 children, 76 males, 4-17 years of age.

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