先天性低促性腺激素性性腺功能减退症

基本事实

遗传方式

常染色体显性、常染色体隐性、X 连锁隐性

发病年龄

婴儿期、新生儿期

相关基因 27来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

近两年的全球研究 197L2

2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-10开放获取
  Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum
  Journal of neuroendocrinology · DOI · Europe PMC
• 2026-09综述
  Current perspectives on the pharmacologic treatment of boys and adolescents with congenital hypogonadotropic hypogonadism
  Expert opinion on pharmacotherapy · DOI · Europe PMC
• 2026-09综述开放获取
  Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility
  Journal of clinical medicine · DOI · Europe PMC
• 2026-09
  Comment on "Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome" (Barraud et al., Neuroendocrinology, 2021;111:99-114)
  Neuroendocrinology · DOI · Europe PMC
• 2026-09开放获取
  Identification and Functional Characteristics of <i>NR5A1</i> Gene Variant in Patients with 46,XY Disorders of Sex Development
  Genes · DOI · Europe PMC
• 2026-09病例报告开放获取
  Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a <i>de novo</i> variant of uncertain significance
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-08开放获取
  Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report
  Clinical case reports · DOI · Europe PMC
• 2026-08病例报告开放获取
  From Amenorrhea to Pregnancy: Comprehensive Management of GnRH Pulse Therapy Achieving Pregnancy in a Woman with Idiopathic Hypogonadotropic Hypogonadism
  International journal of women's health · DOI · Europe PMC
• 2026-08综述开放获取
  Incomplete male puberty: a new nosographic entity
  Endocrine · 被引 1 · DOI · Europe PMC
• 2026-08开放获取
  Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family
  Frontiers in genetics · DOI · Europe PMC
• 2026-08开放获取
  Establishing the role of ZBTB20 mutations in GnRH deficiency and impaired neurogenesis in the subventricular zone: a human cohort and animal model study
  EBioMedicine · DOI · Europe PMC
• 2026-08病例报告
  Double heterozygous PROK2 p.(Ile55Ter)-PROKR2 p.(Arg85Leu) variants: case report of an oligogenic case of congenital hypogonadotropic hypogonadism with anosmia
  Sexual development : genetics, molecular biology, evolution, endocrino · DOI · Europe PMC
• 2026-08开放获取
  Clinical features of androgen abuse withdrawal in men during the first year of cessation: a community dwelling study
  The Journal of clinical endocrinology and metabolism · 被引 2 · DOI · Europe PMC
• 2026-07开放获取
  Association Study Between <i>NOTCH2</i> Gene and Idiopathic Central Precocious Puberty in Korean Girls
  International journal of molecular sciences · DOI · Europe PMC
• 2026-07病例报告开放获取
  Case Report of Initial Manifestation of Hypogonadotropic Hypogonadism Based on Unoccluded Growth Plates in a 26-Year-Old Vietnamese Patient
  Cureus · DOI · Europe PMC
• 2026-07综述开放获取
  Micro-TESE in Non-Obstructive Azoospermia: Phenotype-Guided Hormonal Optimization and Testosterone Response-Prognostic Biomarker or Therapeutic Target?
  Journal of clinical medicine · DOI · Europe PMC
• 2026-07开放获取
  The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30-Year Experience at a Tertiary Paediatric Centre
  Clinical endocrinology · DOI · Europe PMC
• 2026-07开放获取
  A Novel Hemizygous <i>ANOS1</i> Variant in a Patient With Kallmann Syndrome and Type 2 Diabetes Mellitus: A Case Report
  Case reports in endocrinology · DOI · Europe PMC
• 2026-07综述开放获取
  Is Male Hypogonadism a Risk Factor for Cancer Through Weakening of the Immune System?
  International journal of molecular sciences · DOI · Europe PMC
• 2026-07开放获取
  Single-nuclei RNA sequencing reveals heterogeneity within developing GnRH3 neurons in zebrafish
  Journal of neuroendocrinology · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 5L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 1

• 尚未开始招募NCT06561594
  To Evaluate Recombinant Human Follicle Stimulating Hormone-CTP Fusion Protein Injection or Placebo Combined With Chorionic Gonadotropin for Injection
  III 期 · 干预性 · 2024/09/20Changchun GeneScience Pharmaceutical Co., Ltd.
  中国研究中心 17 个：Beijing、Chengdu、Guangzhou、Hefei、Jining、Nanchang 等 12 地

中国境外的在招试验 4L2

共 5 项。

• 尚未开始招募NCT04252001
  Growing up With the Young Endocrine Support System (YESS!)
  不适用 · 干预性 · 2024/12/01dr. Laura C. G. de Graaff-Herder
  比利时、荷兰、西班牙、英国
• 招募中NCT05896293
  Kisspeptin Administration Subcutaneously to Patients With IHH
  II 期 · 干预性 · 2023/02/03Stephanie B. Seminara, MD
  美国
• 招募中NCT01500447
  Inherited Reproductive Disorders
  观察性 · 2012/04/25National Institute of Environmental Health Sciences (NIEHS)
  美国
• 招募中NCT01601171
  Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
  观察性 · 2012/03Centre Hospitalier Universitaire Vaudois
  瑞士
• 招募中NCT01793168
  Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
  观察性 · 2010/07Sanford Health
  澳大利亚、美国

外部标识与链接