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 186L2

2024/08 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。

• 2026-08
  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
• 2026-07
  The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30-Year Experience at a Tertiary Paediatric Centre
  Clinical endocrinology · DOI · Europe PMC
• 2026-07
  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
• 2026-06
  Erratum
  Neuroendocrinology · DOI · Europe PMC
• 2026-06综述
  Reversible congenital hypogonadotropic hypogonadism: keys for clinical management
  Archives of endocrinology and metabolism · DOI · Europe PMC
• 2026-06病例报告开放获取
  Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss
  Human mutation · DOI · Europe PMC
• 2026-06综述开放获取
  Improvements in screening test, diagnosis, and outcomes of children with congenital hypothyroidism: lessons learned from 50 years of newborn screening
  Endocrine · DOI · Europe PMC
• 2026-06开放获取
  Bone mineral density in adolescents and young women with hypogonadism: a DXA-based comparative analysis
  Journal of the Turkish German Gynecological Association · DOI · Europe PMC
• 2026-05开放获取
  Transient gonadotropin suppression by exogenous testosterone decreases INSL3 in early puberty in boys with constitutional delay of growth and puberty
  Journal of the Endocrine Society · DOI · Europe PMC
• 2026-05开放获取
  Predictors of early response to GnRH and gonadotropin therapy in pediatric patients with suspected dual congenital hypogonadotropic hypogonadism: a retrospective single-center study
  Frontiers in endocrinology · DOI · Europe PMC
• 2026-05病例报告开放获取
  Successful Pregnancy in a Woman With Primary Infertility Associated With Isolated Hypogonadotropic Hypogonadism and Partial Empty Sella Syndrome: A Case Report
  Cureus · DOI · Europe PMC
• 2026-05开放获取
  Microglia Rank signaling regulates GnRH neuronal function and the hypothalamic-pituitary-gonadal axis
  Science (New York, N.Y.) · DOI · Europe PMC
• 2026-05
  A bibliometric analysis of Kallmann syndrome: trends, hotspots, and future directions
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2026-05病例报告开放获取
  When Lifelong Anosmia Reveals Hypogonadism: A Case of Kallmann Syndrome with Primary Amenorrhea
  International journal of women's health · DOI · Europe PMC
• 2026-05开放获取
  Global trends in minipuberty research: A comprehensive bibliometric analysis
  Medicine · DOI · Europe PMC
• 2026-05开放获取
  Care of Patients with Male Hypogonadism: A Joint Position Statement from the Brazilian Society of Endocrinology and Metabolism (SBEM), the Brazilian Society of Urology (SBU), and the Brazilian Association for Sexual Medicine and Health (ABEMSS)
  International braz j urol : official journal of the Brazilian Society · DOI · Europe PMC
• 2026-05开放获取
  Machine learning-based prediction of treatment outcomes and quantitative analysis of contributing factors in fertility induction therapy for adolescent male patients with congenital hypogonadotropic hypogonadism
  Frontiers in molecular biosciences · DOI · Europe PMC
• 2026-04病例报告开放获取
  Case Report: Homozygous <i>KISS1R</i> mutation associated with congenital hypogonadotropic hypogonadism in two siblings: pulsatile GnRH therapy restores pituitary architecture and induces pubertal development
  Frontiers in medicine · DOI · Europe PMC
• 2026-04病例报告开放获取
  Successful ovulation and pregnancy with pulsatile GnRH pump therapy in a polycystic ovary syndrome (PCOS) patient: a case report
  Frontiers in endocrinology · 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）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。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 2

• 招募中NCT05569577
  An Open Labeled RCT on the Effect of Additional hCG Injection for LPS on Pregnancy Outcomes in IHH Patients
  不适用 · 干预性 · 2021/01/01Fudan University
  中国研究中心 2 个：Shanghai
• 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