| HPO |
HP:0000846 |
Adrenal insufficiency |
"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands." [HPO:probinson, PMID:11443143] |
Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. |
HP:0011733 |
| HPO |
HP:0002215 |
Sparse axillary hair |
"Reduced number or density of axillary hair." [HPO:probinson] |
— |
HP:0008070, HP:0100134 |
| HPO |
HP:0012870 |
Vanishing testis |
"A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [HPO:probinson, PMID:22985611] |
— |
HP:0000035 |
| HPO |
HP:0000786 |
Primary amenorrhea |
— |
— |
HP:0000141 |
| HPO |
HP:0008726 |
Hypoplasia of the vagina |
"Developmental hypoplasia of the vagina." [HPO:probinson] |
— |
HP:0011026 |
| HPO |
HP:0011969 |
Elevated circulating luteinizing hormone level |
"An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
— |
HP:0000837, HP:0030345 |
| HPO |
HP:0000144 |
Decreased fertility |
— |
— |
HP:0000080 |
| HPO |
HP:0000037 |
Male pseudohermaphroditism |
"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." [HPO:curators] |
— |
HP:0000032 |
| HPO |
HP:0000022 |
Abnormality of male internal genitalia |
"An abnormality of the male internal genitalia." [HPO:probinson] |
The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. |
HP:0000812, HP:0010461 |
| HPO |
HP:0008736 |
Hypoplasia of penis |
— |
— |
HP:0000036, HP:0000050 |
| HPO |
HP:0008734 |
Decreased testicular size |
"Reduced volume of the testicle (the male gonad)." [HPO:probinson] |
— |
HP:0000050, HP:0010468 |
| HPO |
HP:0000062 |
Ambiguous genitalia |
"A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [HPO:probinson, PMID:15102623] |
Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. |
HP:0000811 |
| HPO |
HP:0000008 |
Abnormal morphology of female internal genitalia |
"An abnormality of the female internal genitalia." [HPO:probinson] |
— |
HP:0000812, HP:0010460 |
| HPO |
HP:0000271 |
Abnormality of the face |
"An abnormality of the face." [HPO:probinson] |
— |
HP:0000234 |
| HPO |
HP:0008633 |
Agonadism |
"Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females)." [] |
Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous. |
HP:0000812 |
| HPO |
HP:0010469 |
Absent testis |
"Testis not palpable in the scrotum or inguinal canal." [HPO:probinson, PMID:23650202] |
Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. |
HP:0010468 |