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46,XY partial gonadal dysgenesis

disorder
SNOMED 725045004CUI C4510744

Overview

46,XY partial gonadal dysgenesis is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal internal genitalia
Very frequent (80-99%)HP:0000812
Abnormal labia morphology
Very frequent (80-99%)HP:0000058
Abnormal scrotum morphology
Very frequent (80-99%)HP:0000045
Abnormal sex determination
Very frequent (80-99%)HP:0012244
Abnormal vagina morphology
Very frequent (80-99%)HP:0000142
Ambiguous external genitalia
Very frequent (80-99%)HP:0000062
Azoospermia
Very frequent (80-99%)HP:0000027
Decreased fertility in females
Very frequent (80-99%)HP:0000868
Decreased serum estradiol
Very frequent (80-99%)HP:0008214
Decreased serum testosterone level
Very frequent (80-99%)HP:0040171
Decreased sexual hair
Very frequent (80-99%)HP:0002225
Decreased testicular size
Very frequent (80-99%)HP:0008734
Elevated circulating follicle stimulating hormone level
Very frequent (80-99%)HP:0008232
Elevated circulating luteinizing hormone level
Very frequent (80-99%)HP:0011969
Female external genitalia in individual with 46,XY karyotype
Very frequent (80-99%)HP:0008730
Gonadotropin excess
Very frequent (80-99%)HP:0000837
Gynaecomastia
Very frequent (80-99%)HP:0000771
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Hypospadias
Very frequent (80-99%)HP:0000047
Male infertility
Very frequent (80-99%)HP:0003251
Osteoporosis
Very frequent (80-99%)HP:0000939
Primary amenorrhea
Very frequent (80-99%)HP:0000786
Primary hypogonadism
Very frequent (80-99%)HP:0000815
Prominent clitoris
Very frequent (80-99%)HP:0008665
Pure gonadal dysgenesis
Very frequent (80-99%)HP:0000133
Rudimentary vagina
Very frequent (80-99%)HP:0008726
Short penis
Very frequent (80-99%)HP:0000054
sparse to absent axillary hair
Very frequent (80-99%)HP:0002215
Streak ovary
Very frequent (80-99%)HP:0010464
Urogenital sinus anomaly
Very frequent (80-99%)HP:0100779

Related Conditions

Hereditary disorder of endocrine system(parent)
Reproductive system hereditary disorder(parent)
Congenital anomaly of endocrine gonad(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
725045004
UMLS CUI
C4510744
Fully Specified Name
46,XY partial gonadal dysgenesis (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.