scholarly journals Familial case of normosmic hypogonadotropic hypogonadism with polydactyly, associated with defect of FGFR1 gene

2018 ◽  
Vol 64 (1) ◽  
pp. 38-41
Author(s):  
Maria V. Gerasimova ◽  
Natalya U. Kalinchenko ◽  
Evgeniy V. Vasiliev ◽  
Vasiliy M. Petrov ◽  
Anatoly N. Tiulpakov
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Familial Case ◽  
Genetic Diagnostics ◽  
Heterozygous Mutation ◽  
High Concentration ◽  
Molecular Genetic Study ◽  
Monogenic Diseases ◽  
Fgfr1 Gene

Congenital isolated hypogonadotropic hypogonadism refers to a group of predominantly monogenic diseases associated with impaired production, secretion, and/or action of the gonadotropin-releasing hormone (GnRH), which leads to a pronounced delay or absence of puberty. Clinical and genetic heterogeneity is typical of this group of diseases. To date, about 30 candidate genes associated with the development of various forms of secondary hypogonadism are known. Congenital hypogonadotropic hypogonadism can be verified only using molecular genetic diagnostics. The correct diagnosis is necessary for predicting the disease course and choosing the proper approach for managing the patient. We describe a familial case of normosmic hypogonadotropic hypogonadism and late puberty associated with a mutation in the FGFR1 gene. The case is interesting because of pronounced phenotypic manifestations and their high concentration in the proband’s family history. Also of interest is the phenotype untypical of mutations in this gene. The molecular genetic study was performed using new generation sequencing with the authors’ panel of primers and a PGM semiconductor sequencer (Ion Torrent). The Sanger method was used to confirm the identified mutation and examine the proband’s relative. In both patients, a heterozygous mutation in the FGFR1 gene, previously described in Kallmann syndrome, was detected.

scholarly journals Familial case of normosmic hypogonadotropic hypogonadism with polydactyly, associated with defect of FGFR1 gene

2018 ◽  
Vol 64 (1) ◽  
pp. 38-41
Author(s):  
Maria V. Gerasimova ◽  
Natalya U. Kalinchenko ◽  
Evgeniy V. Vasiliev ◽  
Vasiliy M. Petrov ◽  
Anatoly N. Tiulpakov
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Familial Case ◽  
Genetic Diagnostics ◽  
Heterozygous Mutation ◽  
High Concentration ◽  
Molecular Genetic Study ◽  
Monogenic Diseases ◽  
Fgfr1 Gene

Congenital isolated hypogonadotropic hypogonadism refers to a group of predominantly monogenic diseases associated with impaired production, secretion, and/or action of the gonadotropin-releasing hormone (GnRH), which leads to a pronounced delay or absence of puberty. Clinical and genetic heterogeneity is typical of this group of diseases. To date, about 30 candidate genes associated with the development of various forms of secondary hypogonadism are known. Congenital hypogonadotropic hypogonadism can be verified only using molecular genetic diagnostics. The correct diagnosis is necessary for predicting the disease course and choosing the proper approach for managing the patient. We describe a familial case of normosmic hypogonadotropic hypogonadism and late puberty associated with a mutation in the FGFR1 gene. The case is interesting because of pronounced phenotypic manifestations and their high concentration in the proband’s family history. Also of interest is the phenotype untypical of mutations in this gene. The molecular genetic study was performed using new generation sequencing with the authors’ panel of primers and a PGM semiconductor sequencer (Ion Torrent). The Sanger method was used to confirm the identified mutation and examine the proband’s relative. In both patients, a heterozygous mutation in the FGFR1 gene, previously described in Kallmann syndrome, was detected.

Challenges in the differential diagnosis of multiple endocrine neoplasia syndrome type 1 with isolated family hyperparathyroidism

2020 ◽  
Vol 98 (3) ◽  
pp. 218-225
Author(s):  
J. A. Krupinova ◽  
N. G. Mokrysheva ◽  
N. Y. Kalinchenko ◽  
A. K. Eremkina ◽  
A. N. Polyakov ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Molecular Genetic ◽  
Pancreatic Neuroendocrine Tumor ◽  
Family Type ◽  
Dynamic Monitoring ◽  
Heterozygous Mutation ◽  
Molecular Genetic Study ◽  
Men 1 ◽  
Endocrine Neoplasia

Multiple endocrine neoplasia type 1 (MEN-1) is the most common cause of the hereditary type of primary hyperparathyroidism (PHPT). If a family type of PHPT is suspected, a dynamic monitoring of patients and their close relatives should be carried out throughout their lives. We present a clinical case of a family in which four members of a pedigree were diagnosed with familial isolated hyperparathyroidism (FIHP). The diagnosis was changed to MEN-1, because it appeared that one of the patients had pancreatic neuroendocrine tumor. Molecular genetic study of MEN1 by direct by means of Sanger sequencing revealed that six family members had a new heterozygous mutation in exon 9: s. 1252 G> T p. D418Y.

Hereditary variant of diabetes mellitus caused by a defect of the NEUROD1 gene (MODY6): the first description in Russia

2016 ◽  
Vol 62 (3) ◽  
pp. 16-20 ◽  
Author(s):  
Olesya A. Gioeva ◽  
Anna A. Kolodkina ◽  
Evgeny V. Vasilyev ◽  
Vasiliy M. Petrov ◽  
Anatoly N. Tiulpakov
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
Regulation Of Transcription ◽  
Next Generation ◽  
Molecular Genetic Study ◽  
Inherited Disorders ◽  
Dominant Type ◽  
Monogenic Diseases ◽  
Generation Sequencing

MODY (Maturity-Onset diabetes of the young) is a heterogeneous group of disorders characterized by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic b-cells. Currently 13 candidate genes of MODY, and, respectively, 13 MODY subtypes are known. The final diagnosis can be established only on the basis of molecular genetic studies, which is the «gold standard» in the diagnosis of this disease. MODY2 and MODY3 are the most prevalent subtypes and were previously described in our country. Rare MODY subtypes have not been described in Russian literature. In this article we describe the first diagnosed case of MODY6 in Russia (a defect of the NEUROD1 gene, encoding neurogenic differentiation factor 1, which plays an important role in normal differentiation of β-cells of the pancreas and the regulation of transcription of the insulin gene). Molecular genetic study was conducted using the method of next-generation sequencing, has recently been widely used for genetic verification of monogenic diseases and, in particular, MODY. Technology of next-generation sequencing for diagnosing inherited disorders of carbohydrate metabolism in domestic practice used for the first time.

scholarly journals Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation

2021 ◽  
Vol 67 (3) ◽  
pp. 68-72
Author(s):  
D. A. Khabibullina ◽  
N. Yu. Kalinchenko ◽  
S. V. Egorova ◽  
E. V. Vasilyev ◽  
V. M. Petrov ◽  
...  
Keyword(s):  
Clinical Features ◽  
Wide Spectrum ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Charge Syndrome ◽  
Molecular Genetic Analysis ◽  
Familial Case ◽  
Correct Treatment ◽  
Clinical Criteria

CHARGE syndrome is a rare autosomal dominant disease caused by CHD7 gene mutations. Individuals with CHARGE display a wide spectrum of clinical features. It might be presented only as a delay puberty, which does not require any hormone replacement therapy to severe CHARGE phenotype, requiring a multidisciplinary therapeutic approach. Wild spectrum of clinical presentation can be seen even among the patients with identical mutation. Diagnosis might be suspected by a combination of major and minor clinical criteria of this disorder, but molecular genetic analysis is mandatory for final verification. Accurate diagnosis is essential to informing patients about all possible clinical features, reproductive status and choosing the correct treatment approach. The most common endocrine abnormality in patients with CHARGE syndrome is the disturbance in gonadotropins function ranged from delay puberty to persistent hypogonadotropic hypogonadism with different olfactory phenotypes, resulted by specific role of CHD7 in GnRH neuronal embryogenesis.We describe a familial case of CHARGE syndrome with significant intrafamilial clinical heterogeneity due to CHD7 gene mutation.

The combination of two monogenic diseases, congenital lamellar ichthyosis and type 2 MODY diabetes mellitus

2013 ◽  
Vol 59 (4) ◽  
pp. 28-32
Author(s):  
A O Emel'ianov ◽  
L S Sozaeva
Keyword(s):  
Diabetes Mellitus ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Fasting Blood Glucose ◽  
Molecular Genetic Study ◽  
Lamellar Ichthyosis ◽  
Exon Sequence ◽  
Monogenic Diseases ◽  
Congenital Lamellar Ichthyosis

A 16-year old boy, P.E., is described in whom the diagnosis of congenital lamellar ichthyosis was established at birth based on the clinical picture and confirmed by a molecular genetic study. Diabetes mellitus was first suspected at the age of 10 years based on the elevated fasting blood glucose (7.1 mmol/l) and HbA1c (7.4%) levels. The patient's medical history revealed that his maternal grandmother suffered diabetes mellitus and his mother had gestational diabetes during the second pregnancy. The patient presented with impaired carbohydrate tolerance in the absence of insulin resistance. The molecular genetic study of the GCK gene revealed a Gly80Ser mutation in the third exon sequence. We failed to find a report of the combination of congenital lamellar ichthyosis and type 2 MODY diabetes mellitus in the available literature.

Dedifferentiated endometrial carcinomas with neuroendocrine features: a clinicopathologic, immunohistochemical, and molecular genetic study

2018 ◽  
Vol 72 ◽  
pp. 100-106 ◽  
Author(s):  
Iñigo Espinosa ◽  
Antonio De Leo ◽  
Emanuela D'Angelo ◽  
Juan M. Rosa-Rosa ◽  
Marina Corominas ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Endometrial Carcinomas
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