- Micropenis (HP:0000054): 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. Evidence: PCS. Frequency: 1/4. (PMID:18252794)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:18252794)
- Absent scrotum (HP:0008707): Congenital absence of the scrotum. Evidence: TAS. (OMIM:201810)
- Perineal hypospadias (HP:0000051): Hypospadias with location of the urethral meatus in the perineal region. Evidence: PCS. Frequency: 1/4. (PMID:18252794)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/4. (PMID:18252794)
- Ambiguous genitalia (HP:0000062): 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. Evidence: TAS. (OMIM:201810)
- Increased circulating 17 hydroxypregnenolone concentration (HP:0033809): 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. Evidence: PCS. Frequency: 3/6. (PMID:18252794)
- Impaired cortisol response to corticotropin releasing hormone stimulation test (HP:0031078): Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. Evidence: PCS. Frequency: 2/3. (PMID:18252794)
- Elevated circulating 17-hydroxyprogesterone concentration (HP:0031213): 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. Evidence: PCS. Frequency: 4/4. (PMID:18252794)
- Increased circulating dehydroepiandrosterone-sulfate concentration (HP:0034589): Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:18252794)
- Premature pubarche (HP:0012411): The onset of growth of pubic hair at an earlier age than normal. Evidence: TAS. (OMIM:201810)
- Scrotal hypospadias (HP:0012853): Hypospadias with location of the urethral meatus in the scrotum. Evidence: PCS. Frequency: 1/4. (PMID:18252794)
- Penoscrotal hypospadias (HP:0000808): A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. Evidence: PCS. Frequency: 1/4. (PMID:18252794)
- Adrenal hyperplasia (HP:0008221): Enlargement of the adrenal gland. Evidence: IEA. (OMIM:201810)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 3/4. (PMID:18252794)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:1363812)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: PCS. Frequency: 1/4. (PMID:18252794)
- Microphallus (HP:0030260): Length of penis more than 2 SD below the mean for age accompanied by hypospadias. Evidence: PCS. Frequency: 1/4. (PMID:18252794)
- Male pseudohermaphroditism (HP:0000037): 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. Evidence: IEA. (OMIM:201810)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: PCS. Frequency: 1/4. (PMID:18252794)
- Hypospadias (HP:0000047): 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. Evidence: IEA. (OMIM:201810)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 2/4. (PMID:18252794)
These phenotypes are associated with the disease congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (OMIM:201810).