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Clinical application of an automatic facial recognition system based on deep learning for diagnosis of Turner syndrome
PurposeAutomated facial recognition technology based on deep learning has achieved high accuracy in diagnosing various endocrine diseases and genetic...
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Delayed Puberty in Boys
“Puberty” refers to the stage in human life during which maturation from boy to man (or girl to woman) occurs. The primary sexual characteristics of...
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Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism
BackgroundIdiopathic hypogonadotropic hypogonadism (IHH) is a type of congenital disease caused by a variety of gene variants leading to dysfunction...
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Adolescent Amenorrhea: New Aspects of an Old Problem
Primary amenorrhea (PA), which occurs in 1–5% of girls, describes complete absence of menses, and it is a devastating diagnosis that can affect an...
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Delayed Puberty
Delayed puberty is defined as the absence of breast development in girls at an age that is 2–2.5 standard deviations later than the population mean....
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Congenital Fibrosis of the Extraocular Muscles (CFEOM): A Baby with Poor Tracking and Exotropia
A baby boy presented to the ophthalmology clinic at age 2 months of age with poor visual behavior. His parents reported that he did not seem to fix...
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Cytogenetic and Molecular Genetic Diagnostics
Genetic investigations are now indicated in almost all andrological topics ranging from isolated infertility to specific clinical entities such as...
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Genetik und männliche Infertilität
In around half of couples affected by infertility, a descriptive diagnosis can be established in the male partner. Genetic analyses can help to...
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Classification of Andrological Disorders
Male infertility, hypogonadism, and sexual dysfunction are classified according to localization of the disease as the first ordering principle and...
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Disorders of Puberty
Puberty should not be considered as a single event but rather as one part of the continuum of reproductive function process in which the...
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Disorders of Kidney Formation
Congenital anomalies of the kidneys and urinary tract, otherwise known as CAKUT, are disorders of development, the most common cause of kidney...
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Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for...
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Genetics and Disorders of the Nose and Sinuses
This chapter aims to outline the basic science of DNA, genes and chromosomes. Types of genetic testing and the indications for these will be...
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Male Puberty: What Is Normal and Abnormal?
Puberty is a pivotal time in an adolescent’s life. Knowing when puberty is precocious or delayed is important to correctly diagnose and treat...
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Azoospermia
Azoospermia is the absence of sperm in the ejaculate of a man. While this is confirmed by repeat semen analysis, it is further classified into...
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History Taking and Management of a Female Presenting with Infertility
Areas to focus on:
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Endocrine Disorders
This chapter discusses the links between hormonal disorders and cerebellar symptoms. Cerebellar development depends on thyroid hormone (TH) which...
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Anamnesis and Physical Examination
Anamnesis and physical examination are the beginning of every medical intervention. Especially in the field of andrology and reproductive medicine,...
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History Taking and Management of a Male Presenting with Enlarged Breasts (Gynecomastia)
Areas to be focused on: