Results 51 to 60 of about 2,707 (125)
American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 215-222, January 2026.ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad +8 more
wiley +1 more source
PROK2 / PROKR2 signaling and Kallmann syndrome
Frontiers in Endocrinology, 2013 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 eDodé, Philippe eRondard
doaj +1 more source
Reproductive Medicine and Biology, Volume 25, Issue 1, January/December 2026.ABSTRACT Purpose In April 2022, fertility treatments, including assisted reproductive technology (ART), became eligible for public health insurance coverage in Japan. This study describes the prevalence and characteristics of infertility diagnoses and fertility treatments during the first year of coverage.
Makoto Okawara +6 more
wiley +1 more source
Reproductive Medicine and Biology, Volume 25, Issue 1, January/December 2026.ABSTRACT Purpose To review the biological rationale, clinical evidence, limitations, and future directions for hormonal therapy before sperm retrieval in men with non‐obstructive azoospermia (NOA), with emphasis on phenotype‐based selection using the APHRODITE criteria.
Sandro C. Esteves
wiley +1 more source
Kallmann Syndrome. Case presentation
Medisur, 2016 Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism and anosmia. It affects one of every 10 000 and 50 000 women.
Elodia Rivas Alpízar +3 more
doaj +2 more sources
Andrology, Volume 14, Issue 1, Page 273-283, January 2026.Abstract The exploration of gender differences in non‐andrological fields was the core focus of a series of discussions, which took place at the Endocrinology Unit in Modena, Italy in the form of the aporetic dialogue of ancient Greece. This second episode reports the transcript of the actual debate on testosterone's role in defining empathic behavior ...
Giulia Brigante +6 more
wiley +1 more source
Pediatria PolskaThis report details a case of a female patient with genetically confirmed Kallmann syndrome, which was found to be related to a novel molecular variant of the FGFR1 gene. We present a case of a 12-year-old girl, referred to the Pediatric and Adolescent
Karina Matusiak +1 more
doaj +1 more source
Hypogonadotropic Hypogonadism Associated with Hereditary Hemorrhagic Telengiectasia
Case Reports in Endocrinology, 2013 A 65-year-old man was referred to our clinic for the rehabilitation of right hemiparesis caused by ischaemic stroke. Hypertension, postphlebitic syndrome of lower limbs, frequent nose bleeding, and anemia were present in his history; in his adolescence ...
Scarano Valentina +6 more
doaj +1 more source
Frontiers in Endocrinology, 2014 The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life.
Hernan G VALDES-SOCIN +5 more
doaj +1 more source
Biology Open, 2015 Gonadotropin-releasing hormone (GnRH) is a hypothalamic decapeptide essential for fertility in vertebrates. Human male patients lacking GnRH and treated with hormone therapy can remain fertile after cessation of treatment suggesting that new GnRH neurons
Christian Cortés-Campos +3 more
doaj +1 more source