About 533 results

ALLMedicine™ Kallmann Syndrome Center

Research & Reviews  201 results

Mutation spectrum of Kallmann syndrome: identification of five novel mutations across A...
Reproductive Biology and Endocrinology : RB&E; Chu G, Li P et. al.

Mar 2nd, 2023 - Kallmann syndrome (KS) is a common type of idiopathic hypogonadotropic hypogonadism. To date, more than 30 genes including ANOS1 and FGFR1 have been identified in different genetic models of KS without affirmatory genotype-phenotype correlation, a...

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
American Journal of Medical Genetics. Part A; Nomakuchi TT, Danowitz M et. al.

Feb 17th, 2023 - CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital phenotypes frequently seen in CHD7 disorder include cryptorchidism and micropenis in ma...

SIN3A defects associated with syndromic congenital hypogonadotropic hypogonadism: an ov...
Neuroendocrinology Schnöll C, Krepischi ACV et. al.

Feb 10th, 2023 - Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by GnRH deficiency. More than 40 genes have been associated with the pathogenesis of CHH, but most cases still remain without a molecular diagnosis. Mutations involving the ...

A novel homozygous nonsense NDNF variant in Kallmann syndrome.
American Journal of Medical Genetics. Part A; Kotan LD, Yildiz M et. al.

Dec 2nd, 2022 - Kallmann syndrome (KS) is a rare genetic disease characterized by pubertal failure and olfactory defects. Although many genes associated with KS have been reported, most are rare. Recently, heterozygous inactivating mutations in the neuron-derived...

Reproductive Phenotypes and Genotypes in Men With IHH.
The Journal of Clinical Endocrinology and Metabolism; Dwyer AA, Stamou MI et. al.

Oct 22nd, 2022 - Isolated hypogonadotropic hypogonadism (IHH) is phenotypically and genetically heterogeneous. This work aimed to determine the correlation between genotypic severity with pubertal and neuroendocrine phenotypes in IHH men. A retrospective study was...

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Clinicaltrials.gov  5 results

Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)

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

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

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

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

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...

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News  5 results

Hormone Treatment Improves Cognition in Down Syndrome

Sep 2nd, 2022 - Regular doses of gonadotropin-releasing hormone (GnRH) boosted cognitive skills in people with Down syndrome (trisomy 21), a pilot clinical trial showed. Cognitive performance increased in all but one of seven adult men with Down syndrome treated ...

Growth Hormone Therapy for Certain Children May Help Them Reach Their Potential

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

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

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

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...

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Patient Education  2 results see all →