Correlations Among Genotype and Outcome in Chinese Male Patients With Congenital Hypogonadotropic Hypogonadism Under HCG Treatment

2020 ◽  
Vol 17 (4) ◽  
pp. 645-657
Author(s):  
Yinwei Chen ◽  
Taotao Sun ◽  
Yonghua Niu ◽  
Daoqi Wang ◽  
Zhiyong Xiong ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Male Patients ◽  
Chinese Male

scholarly journals The Clinical and Genetic Characteristics of Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism

2021 ◽  
Author(s):  
Yi Wang ◽  
Miao Qin ◽  
Lijun Fan ◽  
Beibei Zhang ◽  
Chunxiu Gong
Keyword(s):  
Autosomal Recessive ◽  
Hypogonadotropic Hypogonadism ◽  
Positive Family History ◽  
Delayed Puberty ◽  
Genetic Characteristics ◽  
Cell Dysfunction ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Pathogenic Genes ◽  
Rare Phenotype ◽  
Chinese Male

Abstract BackgroundsCongenital hypogonadotropic hypogonadism (CHH) are invided into Kallmann Syndrome (KS) and normosmic HH(nHH). The clinical and genetic characteristics of CHH are more studied in adults, but less in pre-adults. MethodsMedical records of 126 patients with CHH at our hospital during 2008−2020 were evaluated. ResultsTotally, seven patients (5.6%) had hypospadias. Among 49 patients with positive family history, delayed puberty, KS/nHH and olfactory abnormalities accounted for 44.9%, 16.3%, and 12.2%, respectively. Sixty-five patients completed the hCG prolongation test, and T levels of 24 patients were lower than 100 ng/dl. 25 CHH-related genes were found in 78 patients, digenic mutations in 23 patients, and trigenic mutations in 3 patients. The most common pathogenic genes were FGFR1 (21.1%), PROKR2 ( 17.9%), ANOS1 (12.6%), and CHD7 (12.6%). The oligogenicity rate of common autosomal dominant heredity genes accounted for 50.0% (FGFR1, 10/20) and 33.3% (CHD7, 4/12), of autosomal recessive heredity gene PROKR2 accounted for 47.1% (8/17). ConclusionMicropenis and cryptorchidism are important cues for CHH in pre-adulthood; hypospadias is a rare phenotype of CHH. At least 22.9% of patients tested had testicular Leydig cell dysfunction (dual CHH). Oligogenic mutations were found in 27.4% of all patients with CHH.

Health-related quality of life in male patients with congenital hypogonadotropic hypogonadism

2015 ◽  
Vol 83 (1) ◽  
pp. 141-143 ◽  
Author(s):  
Tero Varimo ◽  
Matti Hero ◽  
Eeva-Maria Laitinen ◽  
Harri Sintonen ◽  
Taneli Raivio
Keyword(s):  
Quality Of Life ◽  
Hypogonadotropic Hypogonadism ◽  
Health Related Quality ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Related Quality ◽  
Health Related ◽  
Male Patients

scholarly journals Predictors of reproductive and non-reproductive outcomes of gonadotropin mediated pubertal induction in male patients with congenital hypogonadotropic hypogonadism (CHH)

2021 ◽  
Author(s):  
B. Cangiano ◽  
G. Goggi ◽  
S. Federici ◽  
C. Bresesti ◽  
L. Cotellessa ◽  
...  
Keyword(s):  
Genetic Background ◽  
Semen Analysis ◽  
Hypogonadotropic Hypogonadism ◽  
Bone Age ◽  
Reproductive Outcomes ◽  
Targeted Next Generation Sequencing ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Gonadotropin Stimulation ◽  
Complete Form ◽  
Male Patients

Abstract Purpose To investigate predictors of testicular response and non-reproductive outcomes (height, body proportions) after gonadotropin-induced puberty in congenital hypogonadotropic hypogonadism (CHH). Design A retrospective analysis of the puberty induction in CHH male patients, undergoing an off-label administration of combined gonadotropin (FSH and hCG). Methods Clinical and hormonal evaluations before and during gonadotropin stimulation in 19 CHH patients genotyped by Targeted Next Generation Sequencing for CHH genes; 16 patients underwent also semen analysis after gonadotropins. Results A lesser increase in testicular volume after 24 months of induction was significantly associated with: (I) cryptorchidism; (II) a positive genetic background; (III) a complete form of CHH. We found no significant correlation with the cumulative dose of hCG administered in 24 months. We found no association with the results of semen analyses, probably due to the low numerosity. Measures of body disproportion (eunuchoid habitus and difference between adult and target height: deltaSDSth), were significantly related to the: (I) age at the beginning of puberty induction; (II) duration of growth during the induction; (III) initial bone age. The duration of growth during induction was associated with previous testosterone priming and to partial forms of CHH. Conclusions This study shows that a strong genetic background and cryptorchidism, as indicators of a complete GnRH deficiency since intrauterine life, are negative predictors of testicular response to gonadotropin stimulation in CHH. Body disproportion is associated with a delay in treatment and duration of growth during the induction, which is apparently inversely related to previous androgenization.

scholarly journals The Clinical and Genetic Characteristics of Chinese Male Pediatric Patients with Congenital Hypogonadotropic Hypogonadism

2021 ◽  
Author(s):  
Yi Wang ◽  
Miao Qin ◽  
Lijun Fan ◽  
Beibei Zhang ◽  
Chunxiu Gong
Keyword(s):  
Autosomal Recessive ◽  
Hypogonadotropic Hypogonadism ◽  
Positive Family History ◽  
Delayed Puberty ◽  
Genetic Characteristics ◽  
Cell Dysfunction ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Pathogenic Genes ◽  
Rare Phenotype ◽  
Chinese Male

Abstract Purpose：Congenital hypogonadotropic hypogonadism (CHH) are invided into Kallmann Syndrome (KS) and normosmic HH(nHH). The clinical and genetic characteristics of CHH are more studied in adults, but less in pre-adults. Methods: Medical records of 126 patients with CHH at our hospital during 2008−2020 were evaluated. Results: Totally, seven patients (5.6%) had hypospadias. Among 49 patients with positive family history, delayed puberty, KS/nHH and olfactory abnormalities accounted for 44.9%, 16.3%, and 12.2%, respectively. Sixty-five patients completed the hCG prolongation test, and T levels of 24 patients were lower than 100 ng/dl. 25 CHH-related genes were found in 78 patients, digenic mutations in 23 patients, and trigenic mutations in 3 patients. The most common pathogenic genes were FGFR1 (21.1%), PROKR2 (17.9%), ANOS1 (12.6%) and CHD7 (12.6%). The oligogenicity rate of common autosomal dominant heredity genes accounted for 50.0% (FGFR1, 10/20) and 33.3% (CHD7, 4/12), of autosomal recessive heredity gene PROKR2 accounted for 47.1% (8/17). And W178S accounted for 58.8% of all mutations in PROKRR2.Conclusion: Micropenis and cryptorchidism are important cues for CHH in pre-adulthood; hypospadias is a rare phenotype of CHH. At least 22.9% of patients tested had testicular Leydig cell dysfunction (dual CHH). Oligogenic mutations were found in 27.4% of all patients with CHH. W178S in PROKRR2 maybe a founder mutation in Chinese CHH crowds.

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