Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
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Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Kallmann Syndrome, Hypogonadotropic Hypogonadism, Hypothalamic Amenorrhea, Polycystic Ovarian Syndrome. Базовые параметры: Без ограничений · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Швейцария
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate
Обзор
The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.
Подробное описание
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 population and is influenced by both genetic and environmental factors. In extreme cases of pubertal delay, puberty progresses only partially or not at all and results in the clinical picture of congenital hypogonadotropic hypogonadism (CHH), either accompanied by anosmia in 50% of cases (Kallmann syndrome \[KS\]) or by normal sense of smell (nCHH), with a male: female ratio of 4:1.
CHH is due to GnRH deficiency (incidence 1: 4,000-10,000) and result in the failure of sexual maturation and infertility. It is genetically heterogeneous, with multiple patterns of inheritance and several associated loci. In the clinical spectrum of GnRH deficiency, CHH may also be associated with a cleft lip/palate (CL/P) in 5 to 7% of cases. However, this prevalence increases up to 40% in CHH patients carrying a mutation in a CL/P gene, suggesting a genetic overlap between CHH and CL/P.
Disorders of puberty have provided insight into the biology of reproduction and genetic technologies have enabled us to deepen understanding in this field. The focus of this study is to better understand the genetic control of puberty and human reproduction as well as its link with CL/P.
Increasing understanding of the molecular basis (genes) of inherited reproductive disorders and CL/P may enable investigators to:
* improve diagnostic testing and treatments for these problems * develop new diagnostic tests and therapies for patients * enhance counseling for patients and families with reproductive disorders * enhance counseling for patients and families with cleft lip/palate
Первичные конечные точки
- rare sequence variant(s) in gene(s) [Срок оценки: 1 year (ongoing if no variants are identified)]
Вторичные конечные точки (3)
- functionality of identified rare sequence variants (mutations) [Срок оценки: 1 year (following variant identification)]
- mode of inheritance [Срок оценки: 1 year (following variant identification)]
- genotype-phenotype correlation [Срок оценки: 1 year (following variant identification)]
Критерии участия
Inclusion Criteria:(any of the following conditions)
- hypogonadotropic hypogonadism
- Kallmann syndrome
- adult-onset hypogonadotropic hypogonadism
- hypothalamic amenorrhea
- polycystic ovarian syndrome
- primary gonadal failure
- precocious puberty
- cleft lip/palate
- family members of the above groups
Критерии исключения
- acute illness/hospitalization
- pituitary tumors
- iron overload (hemochromatosis)
- infiltrative diseases (sarcoidosis)
- chronic alcohol abuse
- illicit drug use
- anabolic steroid abuse
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Да
Дизайн исследования
- Модель наблюдения
- Случай-контроль
Центры проведения
Швейцария · 1 центр
- Centre Hospitalier Universitaire Vaudois (CHUV) — Lausanne
Публикации
- Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individu PMID 23643382
- Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N. Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity wit PMID 25394172
Идентификаторы
NCT: NCT01601171 · 345/11