Results 81 to 90 of about 300,381 (385)
Combined atypical primary hypoadrenocorticism and primary hypothyroidism in a dog [PDF]
A dog with combined atypical primary hypoadrenocorticism and primary hypothyroidism is described. The dog presented with waxing and waning, vague complaints since more than a year and had been treated with several drugs without complete resolution of ...
Binst, Dominique+5 more
core
Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling [PDF]
Objectives: To determine ages at first capillary sampling and notification and age at notification after second sampling in Scottish newborns referred with elevated thyroid-stimulating hormone (TSH).
Donaldson, Malcolm+6 more
core +1 more source
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini+8 more
wiley +1 more source
Background: Subclinical hypothyroidism has been associated with increased risk for depression, yet the findings remain controversial. It is possible that subclinical hypothyroidism is associated with some, but not all symptoms of depression.
Jaakko Airaksinen+6 more
doaj
Hypothyroidism and obesity: An intriguing link
According to common perception, hypothyroidism is held responsible for obesity. However, linking them causally is controversial. Overt hypothyroidism is associated with modest weight gain, but there is a lack of clarity regarding subclinical ...
D. Sanyal, M. Raychaudhuri
semanticscholar +1 more source
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione+12 more
wiley +1 more source
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]
<b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm+6 more
core +1 more source
Secondary hypothyroidism in adults: diagnosis and treatment
Secondary hypothyroidism is a rare disease. There is a number of questions and difficulties in diagnosis and management of this condition. There are two forms of secondary hypothyroidism: congenital (casuistic seldom) and acquired.
Tatiana A. Kienia+2 more
doaj +1 more source
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck.
Gail Mick
semanticscholar +1 more source
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon+20 more
wiley +1 more source