×
About 505 results

ALLMedicine™ Kallmann Syndrome Center

Research & Reviews  193 results

Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann s...
https://doi.org/10.1515/jpem-2021-0730
Journal of Pediatric Endocrinology & Metabolism : JPEM; García-García E, Fernández RM et. al.

Aug 7th, 2022 - Congenital hypogonadotropic hypogonadism combined with anosmia or hyposmia is considered Kallmann syndrome (KS). It is often accompanied by bone defects. Here, we report a girl and her mother with KS caused by a novel mutation in the fibroblast gr...

Hypogonadism
https://emedicine.medscape.com/article/922038-overview

Aug 3rd, 2022 - Practice Essentials Hypogonadism refers to a condition in which little or no hormone is produced by the testes or ovaries. The condition can be hypergonadotropic (primary, resulting when the gonads fail) or hypogonadotropic. The latter can result ...

Hypogonadism Clinical Presentation
http://emedicine.medscape.com/article/922038-clinical

Aug 3rd, 2022 - History Males and females For both males and females with hypogonadism, determining whether evidence of a genital abnormality is present at birth or determining the timing and extent of puberty is important. In addition, because Kallmann syndrome ...

Hypogonadism
https://emedicine.medscape.com/article/922038-print

Aug 3rd, 2022 - Practice Essentials Hypogonadism refers to a condition in which little or no hormone is produced by the testes or ovaries. The condition can be hypergonadotropic (primary, resulting when the gonads fail) or hypogonadotropic. The latter can result ...

Hypogonadism
http://emedicine.medscape.com/article/922038-overview

Aug 3rd, 2022 - Practice Essentials Hypogonadism refers to a condition in which little or no hormone is produced by the testes or ovaries. The condition can be hypergonadotropic (primary, resulting when the gonads fail) or hypogonadotropic. The latter can result ...

see more →

Clinicaltrials.gov  5 results

Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)
https://clinicaltrials.gov/ct2/show/NCT00392756

Jul 11th, 2022 - The specific aims of this study are: To identify men and women with hypogonadotropic hypogonadism and to define the spectrum of abnormalities in GnRH secretion in these patients. To study the physiology and control of the reproductive system in th...

Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
https://clinicaltrials.gov/ct2/show/NCT00494169

Jun 30th, 2022 - Overview: Our work is divided into two main areas of investigation: the discovery of new, yet-undiscovered genes for conditions of early (i.e. precocious) puberty, delayed puberty, and/or absence of pubertal development (i.e. Kallmann syndrome/hyp...

Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
https://clinicaltrials.gov/ct2/show/NCT01601171

Jun 21st, 2022 - The World Health Organization estimates approximately 10% of couples experience some sort of infertility problem. In humans, puberty is the process through which we develop reproductive capacity. The timing of puberty varies greatly in the general...

Health Needs of Patients With Kallmann Syndrome
https://clinicaltrials.gov/ct2/show/NCT01914172

Sep 29th, 2017 - This study aims to examine the experiences of patients diagnosed with Kallmann syndrome (KS)/congenital hypogonadotropic hypogonadism (CHH). The study includes two parts: online survey (less than 30 minutes to complete) focus groups with KS/CHH pa...

A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland
https://clinicaltrials.gov/ct2/show/NCT00623116

Feb 25th, 2008 - Kallmann syndrome is comprised of idiopathic hypogonadotropic hypogonadism and anosmia (inability to smell). Associated phenotypes may include cryptorchidism, microphallus, bone deformations, mirror movements, hearing loss and infertility. Objecti...

see more →

News  4 results

Growth Hormone Therapy for Certain Children May Help Them Reach Their Potential
https://www.medscape.com/viewarticle/966890

Jan 25th, 2022 - "Dr Lilley, you'll always be my favorite doctor; you helped me grow." These were the parting words from the last patient that I treated during my endocrinology fellowship. I had watched this young man grow from a prepubertal 17-year-old to a young...

Replacement of Male Mini-Puberty
https://www.medscape.com/viewarticle/916021_2

Materials and Methods Patients Ten neonates and infants were included, all with bilateral cryptorchidism in the intra-abdominal or inguinal position and micropenis ≤2 cm (≤2 SDS).[14] The absence of neonatal male mini-puberty was confirmed with at...

Replacement of Male Mini-Puberty
https://www.staging.medscape.com/viewarticle/916021_2

Materials and Methods Patients Ten neonates and infants were included, all with bilateral cryptorchidism in the intra-abdominal or inguinal position and micropenis ≤2 cm (≤2 SDS).[14] The absence of neonatal male mini-puberty was confirmed with at...

Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1
https://www.medscape.com/viewarticle/930793_3

Discussion Although there are several observational studies on infant and childhood HS cases, little is known about adult HS patients (Table 5). This is the first report that describes the developmental outcome and endocrinological abnormalities o...

see more →