×
About 408 results

ALLMedicine™ Kallmann Syndrome Center

Research & Reviews  158 results

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

Dec 27th, 2021 - 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 ...

When anorexia nervosa symptoms mask Kallmann syndrome.
https://doi.org/10.1007/s40519-021-01332-z 10.1038/nrdp.2015.74 10.1016/S2215-0366(15)00356-9 10.6065/apem.2018.23.2.57 10.1097/YCO.0b013e328365a321 10.3390/nu11081932 10.1210/er.2018-00116 10.1016/j.metabol.2017.10.012 10.1002/1098-108X(199305)13:4<415::AID-EAT2260130411>3.0.CO;2-T
Eating and Weight Disorders : EWD; Berenbaum T, Ackerman K et. al.

Dec 3rd, 2021 - Although anorexia nervosa might delay puberty, a structured assessment at its onset remains crucial in excluding congenital delayed puberty diseases. During the follow-up of a 15-year-old girl suffering from anorexia nervosa, a change of treatment...

Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypog...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606218
Molecular Genetics & Genomic Medicine; Men M, Chen DN et. al.

Oct 13th, 2021 - Isolated hypogonadotropic hypogonadism (IHH) is a clinical syndrome described by failure of gonadal function secondary to defects on the synthesis, secretion, or action of the gonadotropin-releasing hormone (GnRH). The secreted glycoprotein SEMA3A...

A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8465769
BMC Endocrine Disorders; Xu W, Zhou W et. al.

Sep 27th, 2021 - Variants of chromodomain helicase DNA binding protein 7 (CHD7) gene are commonly associated with Kallmann syndrome (KS) and account for 5-6% of idiopathic hypogonadotropic hypogonadism (IHH) cases. Here we report a novel mutation of CHD7 gene in a...

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by no...
https://doi.org/10.1111/jog.14966
The Journal of Obstetrics and Gynaecology Research; Xia J, Luo X et. al.

Aug 4th, 2021 - Primary amenorrhea as the common symptom has a complicated etiology, and genetic disorders are non-negligible. Kallmann syndrome (KS) is a rare inherited disease characterized by hypogonadotropic hypogonadism and anosmia. KS is uncommon in women a...

see more →

Clinicaltrials.gov  2 results

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  3 results

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 →