46,XY disorder of sex development due to isolated 17,20-lyase deficiency

disorder

SNOMED 1231281009CUI C5681470

Overview

46,XY disorder of sex development due to isolated 17,20-lyase deficiency 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 circulating corticosterone level

Very frequent (80-99%)HP:0012112

Absence of secondary sex characteristics

Very frequent (80-99%)HP:0008187

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Decreased circulating androgen concentration

Very frequent (80-99%)HP:0030349

Decreased fertility

Very frequent (80-99%)HP:0000144

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

Delayed puberty

Very frequent (80-99%)HP:0000823

Elevated circulating follicle stimulating hormone level

Very frequent (80-99%)HP:0008232

Elevated circulating luteinizing hormone level

Very frequent (80-99%)HP:0011969

Enlarged ovaries with cysts

Very frequent (80-99%)HP:0008675

Hypospadias

Very frequent (80-99%)HP:0000047

Osteoporosis

Very frequent (80-99%)HP:0000939

Painful menstruation

Very frequent (80-99%)HP:0100607

Primary amenorrhea

Very frequent (80-99%)HP:0000786

Primary gonadal insufficiency

Very frequent (80-99%)HP:0008193

Primary hypogonadism

Very frequent (80-99%)HP:0000815

Retarded ossification

Very frequent (80-99%)HP:0002750

Sclerocystic ovaries

Very frequent (80-99%)HP:0000147

Short penis

Very frequent (80-99%)HP:0000054

Sparse body hair

Very frequent (80-99%)HP:0002231

Sparse scalp, axillary, and pubic hair

Very frequent (80-99%)HP:0002215

Underdeveloped uterus

Very frequent (80-99%)HP:0000013

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased fertility in females

Frequent (30-79%)HP:0000868

Decreased fertility in males

Frequent (30-79%)HP:0012041

Decreased testicular size

Frequent (30-79%)HP:0008734

Rudimentary vagina

Frequent (30-79%)HP:0008726

Related Conditions

Developmental hereditary disorder(parent)

Reproductive system hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

46,XY disorder of sex development(parent)

Quick Facts

SNOMED CT: 1231281009
UMLS CUI: C5681470
Fully Specified Name: 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (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.