Pseudo‐precocious Puberty Caused by Bilateral Idiopathic Testicular Hyperplasia

Frost, G. J.; Parkin, J M; Scott, David; Watson, M. J.

doi:10.1111/j.1651-2227.1985.tb11047.x

Cited by 4 publications

(1 citation statement)

References 20 publications

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“…In the early 1980s, a unique form of pituitary-independent precocious puberty was described (177)(178)(179), characterized by symmetric testicular enlargement before 3 or 4 yr of age, increased testosterone levels, and low gonadotropins with prepubertal response to GnRH challenge. This familial form of male-limited precocious puberty With the exception of the two last subjects, the reports are from the time before molecular mutation diagnostics were available.…”

Section: A Activating Mutations In the Lh Receptormentioning

confidence: 99%

Mutations of Gonadotropins and Gonadotropin Receptors: Elucidating the Physiology and Pathophysiology of Pituitary-Gonadal Function

2000

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The recent unraveling of structures of genes for the gonadotropin subunits and gonadotropin receptors has provided reproductive endocrinologists with new tools to study normal and pathological functions of the hypothalamic-pituitary-gonadal axis. Rare inactivating mutations that produce distinctive phenotypes of isolated LH or FSH deficiency have been discovered in gonadotropin subunit genes. In addition, there is a common polymorphism in the LH␤ subunit gene with possible clinical significance as a contributing factor to pathologies of LH-dependent gonadal functions. Both activating and inactivating mutations have been detected in the gonadotropin receptor genes, a larger number in the LH receptor gene, but so far only a few in the gene for the FSH receptor. These mutations corroborate and extend our knowledge of clinical consequences of gonadotropin resistance and inappropriate gonadotropin action. The information obtained from human mutations has been complemented by animal models with disrupted or inappropriately activated gonadotropin ligand or receptor genes. These clinical and experimental genetic disease models form a powerful tool for exploring the physiology and pathophysiology of gonadotropin function and provide an excellent example of the power of molecular biological approaches in the study of pathogenesis of diseases. (Endocrine Reviews 21: 2000)

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Section: A Activating Mutations In the Lh Receptormentioning

confidence: 99%