From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
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.
Microphallus- MedGen UID:
- 66816
- •Concept ID:
- C0240701
- •
- Finding
Length of penis more than 2 SD below the mean for age accompanied by hypospadias.
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
Bifid scrotum- MedGen UID:
- 90968
- •Concept ID:
- C0341787
- •
- Congenital Abnormality
Midline indentation or cleft of the scrotum.
Absent scrotum- MedGen UID:
- 488897
- •Concept ID:
- C0426320
- •
- Finding
Congenital absence of the scrotum.
Penoscrotal hypospadias- MedGen UID:
- 105291
- •Concept ID:
- C0452147
- •
- Congenital Abnormality
A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.
Perineal hypospadias- MedGen UID:
- 105292
- •Concept ID:
- C0452148
- •
- Congenital Abnormality
Hypospadias with location of the urethral meatus in the perineal region.
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Scrotal hypospadias- MedGen UID:
- 786371
- •Concept ID:
- C2197691
- •
- Finding
Hypospadias with location of the urethral meatus in the scrotum.
Micropenis- MedGen UID:
- 1633603
- •Concept ID:
- C4551492
- •
- Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Hyperkalemia- MedGen UID:
- 5691
- •Concept ID:
- C0020461
- •
- Finding
An abnormally increased potassium concentration in the blood.
Hyponatremia- MedGen UID:
- 6984
- •Concept ID:
- C0020625
- •
- Finding
An abnormally decreased sodium concentration in the blood.
Adrenal insufficiency- MedGen UID:
- 1351
- •Concept ID:
- C0001623
- •
- Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
Premature pubarche- MedGen UID:
- 575093
- •Concept ID:
- C0342541
- •
- Disease or Syndrome
The onset of growth of pubic hair at an earlier age than normal.
Adrenal hyperplasia- MedGen UID:
- 301220
- •Concept ID:
- C1621895
- •
- Disease or Syndrome
Enlargement of the adrenal gland.
Impaired cortisol response to corticotropin releasing hormone stimulation test- MedGen UID:
- 1378460
- •Concept ID:
- C4476957
- •
- Finding
Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.
Elevated circulating 17-hydroxyprogesterone concentration- MedGen UID:
- 1613419
- •Concept ID:
- C4531273
- •
- Finding
An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.
Increased circulating 17 hydroxypregnenolone concentration- MedGen UID:
- 1788603
- •Concept ID:
- C5539825
- •
- Finding
Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.
Increased circulating dehydroepiandrosterone-sulfate concentration- MedGen UID:
- 1841988
- •Concept ID:
- C5826501
- •
- Finding
Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.
- Abnormality of metabolism/homeostasis
- Abnormality of the endocrine system
- Abnormality of the genitourinary system