Avtor/Urednik		Drole Torkar, Ana; Avbelj Stefanija, Magdalena; Bertok, Sara; Trebušak Podkrajšek, Katarina; Debeljak, Maruša; Stirn-Kranjc, Branka; Battelino, Tadej; Kotnik, Primož
Naslov		Novel insights into monogenic obesity syndrome due to INPP5E gene variant
Tip		članek
Vol. in št.		, št. Vol. 12
Leto izdaje		2021
Obseg		str. 1-9
ISSN		1664-2392 - Frontiers in endocrinology
Jezik		eng
Abstrakt		A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the INPP5E gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive cone-rod type retinal dystrophy diagnosed at the age of four months that progressed in the 1st decade of life. Severe obesity, insulin resistance with hyperinsulinism, and impaired glucose tolerance developed alongside other components of the metabolic syndrome - dyslipidemia, arterial hypertension, and obstructive hypopnea in sleep. At the age of 14 years, primary amenorrhea persists. The patient is managed by regular nutritional advice, metformin, antihypertensive medication, and non-invasive respiratory support during sleep. Differential diagnosis of this rare entity is discussed in extend.
Proste vsebinske oznake		monogenic obesity retinal dystrophy INPP5E gene monogenska debelost distrofija mrežnice gen INPP5E