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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30202 - Endocrinology and metabolism (including diabetes, hormones)

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2017

Kód důvěrnosti údajů

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

Název periodika

Frontiers in Endocrinology

ISSN

1664-2392

e-ISSN

—

Svazek periodika

8

Číslo periodika v rámci svazku

November

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

7

Strana od-do

—

Kód UT WoS článku

000414925000001

EID výsledku v databázi Scopus

2-s2.0-85034064657