Table 1.
Syndrome | Normal serum stimulus of mutant sensor | Hormone over-secreted | Typical early age of onset of hormone excess | Selected comments about expressions |
---|---|---|---|---|
NSHPT# | Low Ca++ | PTH | In fetus | Severe defects at birth reflect onset by fetal over-secretion of PTH |
CNT | TSH | T4, T3 | In fetus | Severe defects at birth reflect onset by fetal over-secretion of iodo-thyronines |
FMPP | LH | Testosterone | 1-3 yr | Not expressed in female carriers of the mutation |
OHSS | CG | Estrogens, progestins, cytokines | Pregnant female | CG from the normal placenta stimulates the mutant FSH receptors in the corpus luteum of pregnancy |
HAIIIA | K+ | Aldosterone | 1 yr | Hyperplasia is in the adrenal fasciculata with atrophy in the adrenal glomerulosa |
Abbreviations: Congenital neonatal thyrotoxicosis CNT; Neonatal severe primary hyperparathyroidism NSHPT; hyperaldosteronism type III HAIII; Familial male-limited precocious puberty FMPP; Ovarian hyperstimulation syndrome OHSS