- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: IEA. (OMIM:202110)
- 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: IEA. (OMIM:202110)
- Hypokalemic alkalosis (HP:0001949). Evidence: IEA. (OMIM:202110)
- Adrenal hyperplasia (HP:0008221): Enlargement of the adrenal gland. Evidence: IEA. (OMIM:202110)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:202110)
- 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: IEA. (OMIM:202110)
- 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:202110)
- Adrenogenital syndrome (HP:0000840): Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. Evidence: IEA. (OMIM:202110)
- Primary amenorrhea (HP:0000786). Evidence: IEA. (OMIM:202110)
These phenotypes are associated with the disease congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (OMIM:202110).