A CASE OF KALLMANN'S SYNDROME WITH SUCCESSFUL INDUCTION OF SPERMATOGENESIS [PDF]
A 26-year-old single man visited our hospital with the chief complaint of having neither an ejaculation nor an orgasm. He was 180 cm tall and weighed 65 kg. He had very sparse pubic hair and no palpable prostate.
伊藤, 晴夫 +4 more
core
PROK2/PROKR2 Signaling and Kallmann Syndrome [PDF]
Kallmann syndrome (KS) is a developmental disease that associates hypogonadism and a deficiency of the sense of smell. The reproductive phenotype of KS results from the primary interruption of the olfactory, vomeronasal, and terminal nerve fibers in the ...
Catherine Dodé, Philippe Rondard
core +2 more sources
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are
A. Topaloğlu
semanticscholar +1 more source
Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. [PDF]
The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter’s syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison’s disease (AD), Hashimoto ...
ANZUINI, Antonella +7 more
core +1 more source
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [PDF]
INSERM
openalex +1 more source
Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism [PDF]
Raja Brauner +3 more
openalex +1 more source
Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, intellectual disability, and microcephaly and his 19-year-old sister with primary amenorrhea, alopecia, and normal ...
Molly B. Sheridan +4 more
doaj +1 more source
We examined 71 adult patients with growth hormone deficiency caused by non-functional masses of chiasmosellar area. Patients were divided into two groups: the first one — men aged 18 to 49 years and the second one — 49 years and above.
Yu.M. Urmanova +2 more
doaj +1 more source
Puberty: Is Your Gingiva Having Mood Swings? [PDF]
Objectives/aim: The purpose of this paper is to explore the effects on the different pathological changes in the oral cavity due to puberty, in both males and females.
Connerley, Kendall A +1 more
core +1 more source
Expanding the Genetic Spectrum of ANOS1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism [PDF]
STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)?
Gonçalves, CI +4 more
core +1 more source

