scholarly journals Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

2012 ◽  
Vol 4 (3) ◽  
pp. 121-126 ◽  
Author(s):  
Fatih Gürbüz ◽  
L. Damla Kotan ◽  
Eda Mengen ◽  
Zeynep Şıklar ◽  
Merih Berberoğlu ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Gene Mutations ◽  
Idiopathic Hypogonadotropic Hypogonadism

Idiopathic hypogonadotropic hypogonadism: a rare cause of primary amenorrhoea in adolescence—a review and update on diagnosis, management and advances in genetic understanding.

2021 ◽  
Vol 14 (4) ◽  
pp. e239495
Author(s):  
Grace Cham ◽  
Brooke O'Brien ◽  
Rebecca MN Kimble
Keyword(s):  
Genetic Disorders ◽  
Pubertal Development ◽  
Hypogonadotropic Hypogonadism ◽  
Gene Mutations ◽  
Serum Levels ◽  
Breast Development ◽  
Idiopathic Hypogonadotropic Hypogonadism ◽  
Primary Amenorrhoea ◽  
Normal Menstrual Cycle ◽  
Uterine Growth

Idiopathic hypogonadotropic hypogonadism (IHH) refers to a family of genetic disorders that affect the production and/or action of gonadotropic-releasing hormone, resulting in reduced serum levels of sex steroids. This condition has a prevalence of 1–10 cases/100 000 births and is characterised by the absence of spontaneous pubertal development. In women, the condition is characterised by the onset of normal adrenarche, with the absence of thelarche and menarche. Pubertal induction for breast development and uterine growth with oestradiol, and sequential maintenance of a normal menstrual cycle and adequate oestrogen for bone health, with an oestrogen and progesterone, is considered first-line treatment. Pregnancy can be achieved in patients who have received and responded to treatment with ovulation induction with exogenous gonadotrophins. Advances in genetic testing have led to increased research and understanding of the underlying genetics of IHH with gene mutations described in up to 50% of all IHH cases.

scholarly journals Genetic Etiology of Idiopathic Hypogonadotropic Hypogonadism

Endocrines ◽  
2021 ◽  
Vol 3 (1) ◽  
pp. 1-15
Author(s):  
Ali Kemal Topaloglu ◽  
Ihsan Turan
Keyword(s):  
Developmental Disorders ◽  
Hypogonadotropic Hypogonadism ◽  
Gene Mutations ◽  
Clinical Diagnostics ◽  
Sex Steroid ◽  
Genetic Etiology ◽  
Idiopathic Hypogonadotropic Hypogonadism ◽  
Sex Steroid Hormone ◽  
Sense Of Smell ◽  
The Face

Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental disorders characterized by low gonadotropin levels in the face of low sex steroid hormone concentrations. IHH is practically divided into two major groups according to the olfactory function: normal sense of smell (normosmia) nIHH, and reduced sense of smell (hyposmia/anosmia) Kallmann syndrome (KS). Although mutations in more than 50 genes have been associated with IHH so far, only half of those cases were explained by gene mutations. Various combinations of deleterious variants in different genes as causes of IHH have been increasingly recognized (Oligogenic etiology). In addition to the complexity of inheritance patterns, the spontaneous or sex steroid-induced clinical recovery from IHH, which is seen in approximately 10–20% of cases, blurs further the phenotype/genotype relationship in IHH, and poses challenging steps in new IHH gene discovery. Beyond helping for clinical diagnostics, identification of the genetic mutations in the pathophysiology of IHH is hoped to shed light on the central governance of the hypothalamo-pituitary-gonadal axis through life stages. This review aims to summarize the genetic etiology of IHH and discuss the clinical and physiological ramifications of the gene mutations.

A case of idiopathic hypogonadotropic hypogonadism which attained remission by LH and FSH treatment

2013 ◽  
Author(s):  
Yui Watanabe ◽  
Takeshi Hayashi ◽  
Hiroyuki Yamazaki ◽  
Katsuyoshi Tojo ◽  
Kazunori Utsunomiya
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Idiopathic Hypogonadotropic Hypogonadism

Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism

2015 ◽  
Author(s):  
Sasha Howard ◽  
Ariel Poliandri ◽  
Helen Storr ◽  
Louise Metherell ◽  
Claudia Cabrera ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Delayed Puberty ◽  
Idiopathic Hypogonadotropic Hypogonadism

Lymphocyte subset distribution and natural killer cell activity in men with idiopathic hypogonadotropic hypogonadism

1991 ◽  
Vol 124 (4) ◽  
pp. 399-404 ◽  
Author(s):  
Wieland Kiess ◽  
Linda L. Liu ◽  
Nicholas R. Hall
Keyword(s):  
Natural Killer Cell ◽  
Natural Killer ◽  
Natural Killer Cell Activity ◽  
Hypogonadotropic Hypogonadism ◽  
Killer Cell ◽  
Cell Activity ◽  
Hormonal Treatment ◽  
Plasma Testosterone ◽  
Idiopathic Hypogonadotropic Hypogonadism ◽  
Testosterone Levels

Abstract. Sex-related differences in immune responsiveness are mediated at least in part by sex steroid hormones. Lymphocyte subset distribution in peripheral blood and natural killer cell function both have been reported to be under hormonal control. In order to gain more insight into sex steroid hormone action on the immune system, we have measured the lymphocyte subset distribution and natural killer cell activity in 18 men with idiopathic hypogonadotropic hypogonadism before treatment, and after hormonal treatment had normalized plasma testosterone levels. In untreated patients, the mean plasma testosterone concentrations were significantly lower than those in the treated men (3.0 ± 0.5 nmol/l vs 16 ± 1.7 nmol/l, p < 0.001). The percentage of peripheral CD3+ lymphocytes, CD8+ cells, the CD4+/CD8+ ratio, and the natural killer cell activity of peripheral mononuclear cells measured in a 51Cr release assay against target K 562 cells did not differ between patients with idiopathic hypogonadotropic hypogonadism and healthy adults, and most importantly, did not change during hormonal treatment which normalized plasma testosterone levels in the patients. In contrast, the percentage of peripheral CD4+ cells was significantly higher in untreated patients compared with normal adult subjects or patients with idiopathic hypogonadotropic hypogonadism after hormonal treatment that resulted in normal plasma testosterone levels (53 ± 2 vs 47 ± 2, p < 0.05). It should be noted that the percentage of peripheral CD 16+ cells was significantly lower in untreated men with low plasma testosterone levels than in normal controls. The percentage of CD16+ cells in peripheral venous blood rose significantly after hormonal treatment restored plasma testosterone levels to normal (6 ± 1 vs 11 ± 1, p < 0.001). In addition, the percentage of peripheral CD16+ cells correlated significantly with the plasma testosterone levels measured in men with idiopathic hypogonadotropic hypogonadism (r = 0.534, p < 0.001). In conclusion, both the percentage of peripheral CD4+ cells (T-helper lymphocytes) and peripheral CD16+ cells (non-T-non-B cells) are related to the plasma testosterone levels in men with idiopathic hypogonadotropic hypogonadism. These data suggest that in vivo human immune cells are under the regulatory influence of endogenous sex steroids.

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