scholarly journals Anti-Müllerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH

2017 ◽  
Vol 102 (4) ◽  
pp. 1102-1111 ◽  
Author(s):  
Hélène Bry-Gauillard ◽  
Florence Larrat-Ledoux ◽  
Jean-Marc Levaillant ◽  
Nathalie Massin ◽  
Luigi Maione ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Kallmann Syndrome ◽  
Ovarian Morphology ◽  
Recombinant Human Fsh

scholarly journals CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

Endocrinology ◽  
2016 ◽  
Vol 157 (5) ◽  
pp. 1956-1966 ◽  
Author(s):  
B. Ian Hutchins ◽  
L. Damla Kotan ◽  
Carol Taylor-Burds ◽  
Yusuf Ozkan ◽  
Paul J. Cheng ◽  
...  
Keyword(s):  
Neuronal Migration ◽  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Coiled Coil ◽  
Reproductive Function ◽  
Kallmann Syndrome ◽  
System A ◽  
Neuronal Migration Disorder ◽  
Gnrh Neurons ◽  
Migration Disorder

Abstract The first mutation in a gene associated with a neuronal migration disorder was identified in patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and anosmia. This pathophysiological association results from a defect in the development of the GnRH and the olfactory system. A recent genetic screening of Kallmann Syndrome patients revealed a novel mutation in CCDC141. Little is known about CCDC141, which encodes a coiled-coil domain containing protein. Here, we show that Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration. Our findings in human patients and mouse models predict that CCDC141 takes part in embryonic migration of GnRH neurons enabling them to form a hypothalamic neuronal network to initiate pulsatile GnRH secretion and reproductive function.

scholarly journals Clinicohormonal Parameters as a Primary Step to Differentiate Normosmic Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome in a Tertiary Care Hospital in Eastern India

2021 ◽  
Author(s):  
Ram Chandra Bhadra ◽  
Dona Saha ◽  
Arjun Baidya
Keyword(s):  
Genetic Disorder ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
Tertiary Care ◽  
Serum Testosterone ◽  
Kallmann Syndrome ◽  
Care Hospital ◽  
Cross Sectional ◽  
Idiopathic Hypogonadotropic Hypogonadism ◽  
Male Predominance

Introduction: Idiopathic hypogonadotropic hypogonadism is a rare gonadal dysgenesis in which puberty does not take place naturally. It occurs due to insufficient pulsatile secretion of Gonadotrophin-Releasing Hormone (GnRH) and the resulting Follicle-Stimulating Hormone (FSH) and Luteinising Hormone (LH) deficiency leads to absence of or delayed sexual maturation. Kallmann syndrome is an uncommon genetic disorder characterised by hypogonadotropic hypogonadism associated with anosmia or hyposmia. When anosmia is absent, the same is referred as normosmic Idiopathic Hypogonadotropic hypogonadism (nIHH). Aim: To find out the significant differences between Kallmann syndrome and nIHH based on clinical features and biochemical assessment as a primary measure to initiate the treatment early. Materials and Methods: This hospital based cross-sectional observational cohort study was conducted in Department of Endocrinology, Nilratan Sircar Medical College and Hospital, Kolkata, India. The study was done on 55 cases of IHH presenting to the department with delayed secondary sexual characteristics. Results: Out of these 55 cases, 45 (81.8%) were of nIHH and only 10 (18.2%) cases were of Kallmann Syndrome. It was found that both the conditions show male predominance. Smell abnormalities were present only in Kallmann group. The level of serum testosterone was significantly higher (p<0.05) in nIHH subjects (mean-35.59 ng/dL) than patients with Kallmann Syndrome (mean-14.90 ng/dL). Patients with Kallmann syndrome showed significantly reduced pubic and axillary hair development and absence of gonadal development. Conclusion: Absence of puberty with anosmia/hyposmia with low serum FSH and LH, drastically reduced serum testosterone, are factors that point towards the diagnosis of Kallmann syndrome even in absence of genetic study, which is helpful for initiation of hormone replacement therapy for treatment.

scholarly journals Amenorrea primaria

2009 ◽  
Vol 60 (1) ◽  
pp. 57-67
Author(s):  
Janer Sepúlveda-Agudelo ◽  
Miguel Ángel Alarcón-Nivia ◽  
Hermes Jaimes-Carvajal
Keyword(s):  
Turner Syndrome ◽  
Hypogonadotropic Hypogonadism ◽  
Kallmann Syndrome ◽  
Primary Amenorrhea ◽  
Menstrual Disorders ◽  
Palabras Clave

Objetivo: se hace una revisión detallada de la amenorreaprimaria, teniendo como base la clasificación propuesta por Mashchak CA y col. de acuerdo con la presencia o ausencia del desarrollo mamario y la presencia o no de útero, por ser la de mayor utilidad para el enfoque de manejo de las pacientes con amenorrea primaria.Metodología: se realizó una búsqueda de la literatura publicada en inglés a través de MEDLINE y OVID, usando como palabras clave: amenorrhea, primary amenorrhea, menstrual disorders, Turner syndrome, Kallmann syndrome, Prader-Willi síndrome, hypogonadotropic-hypogonadism; y se clasificó la información como soporte de la presente revisión, realizando resúmenes para su análisis.Resultados: la amenorrea primaria puede ser causada por una variedad de alteraciones que incluyen anormalidades müllerianas, gonadales, hipofisiarias, hipotalámicas, adrenales y tiroideas, o disfunciones hormonales en estos diferentes niveles. Estas anormalidades pueden ser congénitas por defectos cromosómicos o genéticos, o adquiridas, por lo tanto, es importante realizar un diagnóstico certero de esta patología para llevar a cabo un enfoque terapéutico adecuado, con el fin de disminuir todas las consecuencias que la enfermedad puede causar. Conclusiones: el tratamiento de las pacientes con amenorrea primaria debe ser individualizado, de acuerdo con las posibilidades terapéuticas de cada paciente, pero existen unas preguntas generales que tienen todas las pacientes o sus familiares y son relacionadas con la menstruación y los ciclos menstruales espontáneos posteriores, fertilidad, sexualidad y posibilidad de coitos con penetración vaginal satisfactoria.

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