- 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. (PMID:22051515)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: PCS. Frequency: 1/5. (PMID:22051515)
- Gonadal dysgenesis (HP:0000133): Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. Evidence: PCS. Frequency: 2/5. (PMID:22051515)
- Perineal hypospadias (HP:0000051): Hypospadias with location of the urethral meatus in the perineal region. Evidence: PCS. Frequency: 2/5. (PMID:22051515)
- Gonadoblastoma (HP:0000150): The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. Evidence: PCS. Frequency: 1/5. (PMID:22051515)
- 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: PCS. Frequency: Occasional (HP:0040283). (PMID:22051515)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: PCS. Frequency: 5/5. (PMID:22051515)
- Ovotestis (HP:0012861): A gonad that contains both ovarian follicles and testicular tubular elements. Evidence: PCS. Frequency: 4/5. (PMID:22051515)
- Dysgerminoma (HP:0100621): The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. Evidence: TAS. (OMIM:616425)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:22051515)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: PCS. Frequency: 1/5. (PMID:22051515)
- Dysplastic testis (HP:0008733): A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure. Evidence: PCS. Frequency: 2/5. (PMID:22051515)
- 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: PCS. Frequency: 1/5. (PMID:22051515)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:22051515)
These phenotypes are associated with the disease 46,XY sex reversal 10 (OMIM:616425).