ErkrankungPubertas praecox, zentral; Differentialdiagnose

NGS +

[Sanger]

Zentrale vorzeitige Pubertät, d.h. Gonadotropin-abhängige verfrühte Pubertät, endokrin bedingte Entwicklungserkrankung mit Entwicklung sekundärer Geschlechtsmerkmale, beschleunigtem Wachstum, Knochenreifung, vor normalem Pubertätsalter (8 J. Mädchen + 9 J. Jungen)

Mädchen mit Williams-Beuren-Syndrom (WBS): frühere Pubertät

CYP11B1-Mutationen: Nebennierenhyperplasie, angeboren, aufgrund von 11-beta-Hydroxylase-Mangel

LHCGR-Mutationen: nur beim Jungen!

NR0B1-Mutationen: Vorübergehende vorzeitige sexuelle Entwicklung im Säuglingsalter oder in früher Kindheit

• Alias: Central precocious puberty
• Allelic: 46XY sex reversal 2, dosage-sensitive (NR0B1)
• Allelic: Aldosteronism, glucocorticoid-remediable (CYP11B1)
• Allelic: Aromatase deficiency (CYP19A1)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Hypogonadotropic hypogonadism 13 with/-out anosmia (KISS1)
• Allelic: Hypogonadotropic hypogonadism 8 with/-out anosmia (KISS1R)
• Allelic: Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
• Allelic: Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
• Allelic: Luteinizing hormone resistance, female (LHCGR)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Osseous heteroplasia, progressive (GNAS)
• Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
• Allelic: Polydactyly, preaxial, type IV (GLI3)
• Allelic: Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
• Allelic: Pseudopseudohypoparathyroidism (GNAS)
• ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
• Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
• Adrenal hypoplasia, congenital (NR0B1)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Watson syndrome (NF1)
• Aromatase excess syndrome (CYP19A1)
• Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• Hypothalamic hamartomas, somatic (GLI3)
• Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Pallister-Hall syndrome (GLI3)
• Pituitary adenoma 3, multiple types, somatic (GNAS)
• Precocious puberty, central, 1 (KISS1R)
• Precocious puberty, central, 2 (MKRN3)
• Precocious puberty, male (LHCGR)