Therapy-Induced Growth and Sexual Maturation in a Developmentally Infantile Adult Patient with a PROP1 Mutation

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10365073" target="_blank" >RIV/00216208:11110/17:10365073 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11120/17:43915870 RIV/00216208:11310/17:10365073 RIV/00023761:_____/17:N0000006 RIV/00064173:_____/17:N0000101 RIV/00064165:_____/17:10365073

Result on the web

<a href="http://dx.doi.org/10.3389/fendo.2017.00309" target="_blank" >http://dx.doi.org/10.3389/fendo.2017.00309</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3389/fendo.2017.00309" target="_blank" >10.3389/fendo.2017.00309</a>

Result language

angličtina

Original language name

Therapy-Induced Growth and Sexual Maturation in a Developmentally Infantile Adult Patient with a PROP1 Mutation

Original language description

Background: Hypopituitarism as a result of PROP1 (prophet of PIT1) mutation represents the most common genetic cause of combined deficiency of pituitary hormones and due to growth retardation it is typically diagnosed in childhood. Case description: We present a unique case report of a prepubertal woman with growth retardation in whom combined pituitary hormone deficiency [central hypopituitarism, hypogonadism, and growth hormone (GH) deficiency] caused by homozygous mutation c. 150delA in the PROP1 gene was diagnosed late in young adulthood due to unfavorable life circumstances. Through cautiously combined GH therapy and sex hormone therapy, she has achieved better than expected height (exceeding predictions based on family height) and sexual maturation, including regular menstrual cycles. Conclusion: Early diagnosis of panhypopituitarism due to PROP1 mutation is essential for successful treatment; however, our case report shows that carefully titrated GH treatment and sex hormone substitution, although initiated in adulthood, enable restoration of physiological growth and sexual development in a hormonally infantile adult woman with a PROP1 mutation.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30202 - Endocrinology and metabolism (including diabetes, hormones)

Project

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Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Frontiers in Endocrinology

ISSN

1664-2392

e-ISSN

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Volume of the periodical

8

Issue of the periodical within the volume

November

Country of publishing house

CH - SWITZERLAND

Number of pages

7

Pages from-to

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UT code for WoS article

000414925000001

EID of the result in the Scopus database

2-s2.0-85034064657