{
  "url": "https://dantelabs.com/it/genes/cyp17a1",
  "gene": {
    "slug": "cyp17a1",
    "symbol": "CYP17A1",
    "name": "cytochrome P450 family 17 subfamily A member 1",
    "hgnc": "HGNC:2593",
    "summary": null,
    "location": "10q24.32",
    "locusType": "gene with protein product",
    "aliases": [
      "P450C17",
      "CPT7",
      "S17AH"
    ],
    "previousSymbols": [
      "CYP17"
    ],
    "ensemblId": "ENSG00000148795",
    "entrezId": 1586,
    "omim": [
      "609300"
    ],
    "uniprot": [
      "P05093"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 102830531,
      "end": 102837413,
      "strand": "-",
      "ensemblTranscript": "ENST00000369887.4",
      "refseqTranscript": "NM_000102.4",
      "ensemblProtein": "ENSP00000358903.3",
      "refseqProtein": "NP_000093.1",
      "exons": [
        {
          "start": 102830531,
          "end": 102830985
        },
        {
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        },
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        },
        {
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          "end": 102837413
        }
      ],
      "cds": {
        "start": 102830702,
        "end": 102837361
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 104590288,
      "end": 104597290,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 102333972,
      "end": 103333971,
      "genes": [
        {
          "symbol": "GBF1",
          "ensemblId": "ENSG00000107862",
          "biotype": "protein_coding",
          "start": 102245371,
          "end": 102382899,
          "strand": "+",
          "slug": "gbf1"
        },
        {
          "symbol": "NFKB2",
          "ensemblId": "ENSG00000077150",
          "biotype": "protein_coding",
          "start": 102394110,
          "end": 102402529,
          "strand": "+",
          "slug": "nfkb2"
        },
        {
          "symbol": "PSD",
          "ensemblId": "ENSG00000059915",
          "biotype": "protein_coding",
          "start": 102402614,
          "end": 102421539,
          "strand": "-",
          "slug": "psd"
        },
        {
          "symbol": "FBXL15",
          "ensemblId": "ENSG00000107872",
          "biotype": "protein_coding",
          "start": 102408835,
          "end": 102423142,
          "strand": "+",
          "slug": "fbxl15"
        },
        {
          "symbol": "CUEDC2",
          "ensemblId": "ENSG00000107874",
          "biotype": "protein_coding",
          "start": 102423239,
          "end": 102432718,
          "strand": "-",
          "slug": "cuedc2"
        },
        {
          "symbol": "C10orf95",
          "ensemblId": "ENSG00000120055",
          "biotype": "protein_coding",
          "start": 102449619,
          "end": 102451548,
          "strand": "-",
          "slug": "c10orf95"
        },
        {
          "symbol": "SLC68A1",
          "ensemblId": "ENSG00000138111",
          "biotype": "protein_coding",
          "start": 102461363,
          "end": 102477046,
          "strand": "+",
          "slug": "slc68a1"
        },
        {
          "symbol": "ACTR1A",
          "ensemblId": "ENSG00000138107",
          "biotype": "protein_coding",
          "start": 102461881,
          "end": 102502744,
          "strand": "-",
          "slug": "actr1a"
        },
        {
          "symbol": "SUFU",
          "ensemblId": "ENSG00000107882",
          "biotype": "protein_coding",
          "start": 102503952,
          "end": 102633535,
          "strand": "+",
          "slug": "sufu"
        },
        {
          "symbol": "TRIM8",
          "ensemblId": "ENSG00000171206",
          "biotype": "protein_coding",
          "start": 102642394,
          "end": 102662789,
          "strand": "+",
          "slug": "trim8"
        },
        {
          "symbol": "ARL3",
          "ensemblId": "ENSG00000138175",
          "biotype": "protein_coding",
          "start": 102673731,
          "end": 102714527,
          "strand": "-",
          "slug": "arl3"
        },
        {
          "symbol": "SFXN2",
          "ensemblId": "ENSG00000156398",
          "biotype": "protein_coding",
          "start": 102714476,
          "end": 102743492,
          "strand": "+",
          "slug": "sfxn2"
        },
        {
          "symbol": "WBP1L",
          "ensemblId": "ENSG00000166272",
          "biotype": "protein_coding",
          "start": 102743923,
          "end": 102834613,
          "strand": "+",
          "slug": "wbp1l"
        },
        {
          "symbol": "BORCS7",
          "ensemblId": "ENSG00000166275",
          "biotype": "protein_coding",
          "start": 102854224,
          "end": 102864979,
          "strand": "+",
          "slug": "borcs7"
        },
        {
          "symbol": "BORCS7-ASMT",
          "ensemblId": "ENSG00000270316",
          "biotype": "protein_coding",
          "start": 102854272,
          "end": 102901899,
          "strand": "+",
          "slug": "borcs7-asmt"
        },
        {
          "symbol": "AS3MT",
          "ensemblId": "ENSG00000214435",
          "biotype": "protein_coding",
          "start": 102869296,
          "end": 102901911,
          "strand": "+",
          "slug": "as3mt"
        },
        {
          "symbol": "CNNM2",
          "ensemblId": "ENSG00000148842",
          "biotype": "protein_coding",
          "start": 102918123,
          "end": 103090222,
          "strand": "+",
          "slug": "cnnm2"
        },
        {
          "symbol": "NT5C2",
          "ensemblId": "ENSG00000076685",
          "biotype": "protein_coding",
          "start": 103086478,
          "end": 103277622,
          "strand": "-",
          "slug": "nt5c2"
        },
        {
          "symbol": "RPEL1",
          "ensemblId": "ENSG00000235376",
          "biotype": "protein_coding",
          "start": 103245887,
          "end": 103248016,
          "strand": "+",
          "slug": "rpel1"
        },
        {
          "symbol": "INA",
          "ensemblId": "ENSG00000148798",
          "biotype": "protein_coding",
          "start": 103277082,
          "end": 103290351,
          "strand": "+",
          "slug": "ina"
        },
        {
          "symbol": "PCGF6",
          "ensemblId": "ENSG00000156374",
          "biotype": "protein_coding",
          "start": 103302796,
          "end": 103351150,
          "strand": "-",
          "slug": "pcgf6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-adrenal-hyperplasia",
        "name": "Iperplasia surrenale congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0018479",
            "name": "Iperplasia surrenale congenita",
            "genes": 6,
            "inheritance": "autosomal-recessive",
            "description": "L'iperplasia surrenale congenita (CAH) è una malattia endocrina ereditaria causata dal deficit di un enzima della steroidogenesi. È caratterizzata da insufficienza surrenalica e da manifestazioni variabili di iper- o ipoandrogenismo, a seconda del tipo e della gravità della patologia.",
            "management": "Terapia sostitutiva con glucocorticoidi (idrocortisone nei bambini, prednisone/desametasone negli adulti); terapia sostitutiva con mineralocorticoidi per la forma con perdita di sali (fludrocortisone); surrenalectomia nei casi di grave iperandrogenismo refrattario alla terapia medica; protocolli di adeguamento del dosaggio in condizioni di stress",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/congenital-adrenal-hyperplasia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-corticosterone-level",
        "name": "Abnormal circulating corticosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-corticosterone-level"
      },
      {
        "slug": "abnormal-circulating-dehydroepiandrosterone-concentration",
        "name": "Abnormal circulating dehydroepiandrosterone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-dehydroepiandrosterone-concentration"
      },
      {
        "slug": "abnormal-response-to-acth-stimulation-test",
        "name": "Abnormal response to ACTH stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-response-to-acth-stimulation-test"
      },
      {
        "slug": "abnormal-sex-determination",
        "name": "Abnormal sex determination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-sex-determination"
      },
      {
        "slug": "absence-of-pubertal-development",
        "name": "Absence of pubertal development",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absence-of-pubertal-development"
      },
      {
        "slug": "absence-of-secondary-sex-characteristics",
        "name": "Absence of secondary sex characteristics",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absence-of-secondary-sex-characteristics"
      },
      {
        "slug": "absent-axillary-hair",
        "name": "Absent axillary hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-axillary-hair"
      },
      {
        "slug": "absent-pubic-hair",
        "name": "Absent pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-pubic-hair"
      },
      {
        "slug": "aplasia-of-the-uterus",
        "name": "Absent uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-of-the-uterus"
      },
      {
        "slug": "adrenocorticotropic-hormone-excess",
        "name": "Adrenocorticotropic hormone excess",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenocorticotropic-hormone-excess"
      },
      {
        "slug": "adrenogenital-syndrome",
        "name": "Adrenogenital syndrome",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/adrenogenital-syndrome"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "ambiguous-genitalia-male",
        "name": "Ambiguous genitalia in males",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia-male"
      },
      {
        "slug": "bilateral-cryptorchidism",
        "name": "Bilateral cryptorchidism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-cryptorchidism"
      },
      {
        "slug": "blind-vagina",
        "name": "Blind vagina",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blind-vagina"
      },
      {
        "slug": "bifid-scrotum",
        "name": "Cleft of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-scrotum"
      },
      {
        "slug": "congenital-adrenal-hyperplasia",
        "name": "Congenital adrenal hyperplasia",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-adrenal-hyperplasia"
      },
      {
        "slug": "decreased-circulating-androgen-concentration",
        "name": "Decreased circulating androgen concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-androgen-concentration"
      },
      {
        "slug": "decreased-circulating-renin-concentration",
        "name": "Decreased circulating renin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-renin-concentration"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "slug": "decreased-fertility-in-females",
        "name": "Decreased fertility in females",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility-in-females"
      },
      {
        "slug": "decreased-fertility-in-males",
        "name": "Decreased fertility in males",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility-in-males"
      },
      {
        "slug": "male-hypogonadism",
        "name": "Decreased function of male gonad",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/male-hypogonadism"
      },
      {
        "slug": "decreased-serum-estradiol",
        "name": "Decreased serum estradiol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-estradiol"
      },
      {
        "slug": "decreased-serum-testosterone-concentration",
        "name": "Decreased serum testosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-testosterone-concentration"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "elevated-circulating-follicle-stimulating-hormone-level",
        "name": "Elevated circulating follicle stimulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level"
      },
      {
        "slug": "elevated-circulating-luteinizing-hormone-level",
        "name": "Elevated circulating luteinizing hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level"
      },
      {
        "slug": "adrenal-hyperplasia",
        "name": "Enlarged adrenal glands",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/adrenal-hyperplasia"
      },
      {
        "slug": "gynecomastia",
        "name": "Enlarged male breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gynecomastia"
      },
      {
        "slug": "enlarged-polycystic-ovaries",
        "name": "Enlarged ovaries with cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlarged-polycystic-ovaries"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "female-external-genitalia-in-individual-with-46-xy-karyotype",
        "name": "Female external genitalia in individual with 46,XY karyotype",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/female-external-genitalia-in-individual-with-46-xy-karyotype"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hypergonadotropic-hypogonadism",
        "name": "Hypergonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism"
      },
      {
        "slug": "hypokalemic-alkalosis",
        "name": "Hypokalemic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypokalemic-alkalosis"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "increased-circulating-corticosterone-level",
        "name": "Increased circulating corticosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-corticosterone-level"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "increased-circulating-progesterone",
        "name": "Increased circulating progesterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-progesterone"
      },
      {
        "slug": "increased-urinary-11-deoxycorticosterone-level",
        "name": "Increased urinary 11-deoxycorticosterone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-urinary-11-deoxycorticosterone-level"
      },
      {
        "slug": "sparse-axillary-hair",
        "name": "Limited armpit hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-axillary-hair"
      },
      {
        "slug": "decreased-circulating-aldosterone-concentration",
        "name": "Low blood aldosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-aldosterone-concentration"
      },
      {
        "slug": "decreased-circulating-cortisol-level",
        "name": "Low blood cortisol level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-cortisol-level"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "male-pseudohermaphroditism",
        "name": "Male pseudohermaphroditism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/male-pseudohermaphroditism"
      },
      {
        "slug": "irregular-menstruation",
        "name": "Menstrual irregularity",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-menstruation"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "ovarian-cyst",
        "name": "Ovarian cyst",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ovarian-cyst"
      },
      {
        "slug": "dysmenorrhea",
        "name": "Painful menstruation",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysmenorrhea"
      },
      {
        "slug": "polycystic-ovaries",
        "name": "Polycystic ovaries",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polycystic-ovaries"
      },
      {
        "slug": "precocious-puberty-in-females",
        "name": "Precocious puberty in females",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/precocious-puberty-in-females"
      },
      {
        "slug": "primary-adrenal-insufficiency",
        "name": "Primary adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/primary-adrenal-insufficiency"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "primary-gonadal-insufficiency",
        "name": "Primary gonadal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-gonadal-insufficiency"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "hypoplasia-of-the-uterus",
        "name": "Small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-uterus"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "hypoplasia-of-the-vagina",
        "name": "Underdeveloped vagina",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-vagina"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      }
    ],
    "related": [
      {
        "slug": "cyp11b1",
        "symbol": "CYP11B1",
        "name": "cytochrome P450 family 11 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cyp11b1"
      },
      {
        "slug": "cyp21a2",
        "symbol": "CYP21A2",
        "name": "cytochrome P450 family 21 subfamily A member 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cyp21a2"
      },
      {
        "slug": "hsd3b2",
        "symbol": "HSD3B2",
        "name": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/hsd3b2"
      },
      {
        "slug": "por",
        "symbol": "POR",
        "name": "cytochrome p450 oxidoreductase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/por"
      },
      {
        "slug": "star",
        "symbol": "STAR",
        "name": "steroidogenic acute regulatory protein",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/star"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}