5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
46 citations
,
November 2014 in “The Journal of Clinical Endocrinology & Metabolism” This study concluded that steroid deficiencies were significantly more severe in men with panhypopituitarism than in those with isolated gonadotropin deficiency.
41 citations
,
April 1997 in “Fertility and sterility” In this case study, clomiphene citrate therapy restored hormonal balance and improved symptoms in a young male runner with hypogonadotropic hypogonadism related to endurance exercise.
May 2021 in “Journal of the Endocrine Society” This case report details a diagnosis of adult-onset isolated hypogonadotropic hypogonadism in a 23-year-old African American female, highlighting its genetic basis and treatment approach.
12 citations
,
January 2016 in “Endocrinology, diabetes & metabolism case reports” This report describes a 19-year-old male with 49,XXXXY syndrome receiving testosterone replacement therapy, which led to improvements in reproductive development, metabolism, and social interaction after a year of treatment.
9 citations
,
November 2014 in “Indian Journal of Endocrinology and Metabolism” This case report describes a young female with a rare combination of 46,XX gonadal dysgenesis and MRKH syndrome, highlighting associated infertility challenges.
2 citations
,
March 2011 in “Infertility” This review highlights that while lifestyle changes may help with many ovulatory disorders, oocyte donation is considered a viable option for patients who cannot undergo ovulation induction; it reports no new results.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
April 2019 in “Journal of the Endocrine Society” This case report described a 39-year-old male with 47XXY/46XX mosaic Klinefelter syndrome who presented with common features of the condition and male pattern baldness seen in his family.
January 2017 in “Springer eBooks” Understanding genes and hormones is crucial for managing male puberty and sex development disorders.
2152 citations
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November 2013 in “Urologia Internationalis” This study reviews the significant prevalence of organic etiologies, especially vascular causes, in erectile dysfunction among men under 40 and emphasizes thorough evaluation and consideration of treatment options like exercise and PDE-5 inhibitors.
42 citations
,
January 2006 in “Obstetrical & Gynecological Survey” This article discusses the importance of recognizing and distinguishing polycystic ovary syndrome from similar endocrine disorders, and reports no new clinical results.
7 citations
,
January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
6 citations
,
February 2014 in “Human & experimental toxicology” This case report describes the first instance of facial and oral mucosal hyperpigmentation and acanthosis nigricans linked to testosterone therapy in a patient with idiopathic hypogonadotropic hypogonadism.
5 citations
,
October 2003 in “PubMed” This case report describes a 30-year-old male with a late diagnosis of Kallmann's syndrome, highlighting the necessity of hormonal therapy to reduce the risk of osteoporosis and bone fractures despite the patient's acceptance of his physical appearance.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
May 2023 in “Frontiers in Endocrinology” This study found that tildacerfont treatment in males with congenital adrenal hyperplasia reduced androgen levels and improved markers of testicular function, suggesting potential benefits for male reproductive health.
November 2022 in “Journal of the Endocrine Society” This case study reports that immunotherapy with ipilimumab and nivolumab induced hypophysitis in a patient with renal cell carcinoma, emphasizing the need for careful monitoring of endocrine function in such treatments.
April 2020 in “Journal of the Endocrine Society” This case report describes a 34-year-old woman with pituitary stalk interruption syndrome, highlighting the need for long-term follow-up due to potential progression from isolated hormonal deficiencies to pan-hypopituitarism.
2 citations
,
January 1986 in “Dermatology” This letter discusses alopecia universalis and Kallman’s Syndrome, and offers no new clinical results.
2 citations
,
April 2022 in “Annales d Endocrinologie” This review discusses therapeutic options for pubertal induction in congenital hypogonadotropic hypogonadism, focusing on recombinant gonadotropins, and highlights the need for larger randomized trials to determine optimal treatment strategies.
3 citations
,
April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
October 2011 in “InTech eBooks” This article reviews idiopathic hypogonadotropic hypogonadism (IHH), discussing its genetic and pathophysiological features, and it does not present new clinical results.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” This report details the clinical presentation of an 18-year-old female with Kallmann syndrome, noting her ocular issues and differences in sexual development. The researchers treated her eye conditions cosmetically with superficial keratectomy and amniotic membrane graft, followed by corneal tattooing and strabismus correction.
July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
February 1999 in “Drugs in R & D” The document concludes that various drugs for men's health issues are in development, with treatments for sexual dysfunction and prostate conditions being the most advanced.
29 citations
,
July 2013 in “The Journal of Sexual Medicine” This review discusses the potential role of androgen receptor CAG repeat polymorphism testing in hypogonadism management for both sexes, but its clinical utility remains unclear and requires further investigation.
77 citations
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May 2012 in “Expert Opinion on Emerging Drugs” New treatments for male hypogonadism are effective and should be personalized.
70 citations
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March 2016 in “Urologic Clinics of North America” This article reviews the coordination of the hypothalamic-pituitary-gonadal axis, male fertility, and therapies for hypogonadism, but reports no new clinical findings.