From HPO
Gonadoblastoma- MedGen UID:
- 104912
- •Concept ID:
- C0206661
- •
- Neoplastic Process
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Gonadal dysgenesis- MedGen UID:
- 9075
- •Concept ID:
- C0018051
- •
- Congenital Abnormality
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
Primary amenorrhea- MedGen UID:
- 115918
- •Concept ID:
- C0232939
- •
- Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Male pseudohermaphroditism- MedGen UID:
- 68666
- •Concept ID:
- C0238395
- •
- Congenital Abnormality
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
Ambiguous genitalia- MedGen UID:
- 78596
- •Concept ID:
- C0266362
- •
- Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
Abnormal female external genitalia morphology- MedGen UID:
- 867445
- •Concept ID:
- C4021822
- •
- Anatomical Abnormality
Any structural abnormality of the female external genitalia.
Sex reversal- MedGen UID:
- 868596
- •Concept ID:
- C4022995
- •
- Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Gonadal dysgenesis with female appearance, male- MedGen UID:
- 893083
- •Concept ID:
- C4024632
- •
- Congenital Abnormality
Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.
Abnormality of the menstrual cycle- MedGen UID:
- 893088
- •Concept ID:
- C4025888
- •
- Finding
An abnormality of the ovulation cycle.
Abnormal male external genitalia morphology- MedGen UID:
- 871399
- •Concept ID:
- C4025897
- •
- Anatomical Abnormality
Any structural abnormality of male external genitalia.
Tall stature- MedGen UID:
- 69137
- •Concept ID:
- C0241240
- •
- Finding
A height above that which is expected according to age and gender norms.
Hypergonadotropic hypogonadism- MedGen UID:
- 184926
- •Concept ID:
- C0948896
- •
- Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Elevated circulating follicle stimulating hormone level- MedGen UID:
- 867192
- •Concept ID:
- C4021550
- •
- Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Absence of secondary sex characteristics- MedGen UID:
- 867193
- •Concept ID:
- C4021551
- •
- Finding
No secondary sexual characteristics are present at puberty.
Elevated circulating luteinizing hormone level- MedGen UID:
- 868698
- •Concept ID:
- C4023101
- •
- Finding
An elevated concentration of luteinizing hormone in the blood.
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Growth abnormality
- Neoplasm