Rare diseases · Sign or symptom
Increased circulating gonadotropin level
Elevated gonadotropins
HP:0000837
What it means
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
Rare diseases that can present with this32
Very common80–99%
21- 46,XX gonadal dysgenesis
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- 46,XY partial gonadal dysgenesis
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Estrogen resistance syndrome
- Frasier syndrome
- Hypergonadotropic hypogonadism-cataract syndrome
- Leydig cell hypoplasia
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Male infertility with teratozoospermia due to single gene mutation
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Ovarian hyperstimulation syndrome
- Perrault syndrome
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Testicular agenesis
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- X-linked intellectual disability, Cilliers type
Common30–79%
3The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Elevated serum gonadotropins · Gonadotropin excess
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.