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Central Precocious Puberty in a Patient with Multiple Pituitary Hormone Deficiency Due to POU1F1 (PIT1) Gene Mutation

  • Zehra Yavaş Abalı
  • Şükran Poyrazoğlu
  • Firdevs Baş
  • Oya Uyguner
  • Güven Toksoy
  • Rüveyde Bundak
  • Nurçin Saka
  • Feyza Darendeliler

J Clin Res Pediatr Endocrinol 2015;7(2):72-72

Background:

Multiple pituitary hormone deficiency (MPHD) associated with central precocious puberty (CPP) has been widely reported in cases of arachnoid cyst, septo-optic dysplasia, brain tumors, or after cranial irradiation. However, MPHD due to deficiency of transcription factors that regulate the development of hypothalamo- pituitary system is rarely reported in combination with CPP. CPP may delay the diagnosis of growth hormone (GH) deficiency and adversely affects adult height. In this report, a patient with MPHD due to POU1F1 (PIT1) deficiency and CPP is described because of its rarity.

Case:

A 20-month-old boy presented with short stature. He had the diagnosis of central hypothyroidism and has been receiving L-thyroxin therapy since the age of 3 months. He was born at 34 gestational weeks [birth weight 0.6 standard deviation (SD), birth length -1.2 SD], and had no perinatal asphyxia. Severe short stature (length 62 cm, -6.6 SD) was detected. There was no dysmorphic features. Testicles were scrotal and pre-pubertal. GH deficiency and prolactin deficiency were detected and there were no abnormalities in cranial and pituitary magnetic resonance imaging except for pituitary hypoplasia. While he was on GH (started at age 2 years) and L-thyroxin therapy, puberty started at 79/12 years. Gonadotropin-releasing hormone (GnRH) analogue was started at 8 years due to rapid progression of puberty and continued up to 11 years of age. In the patient who had thyroid-stimulating hormone, prolactin, and GH deficiencies, a new point mutation was detected in the POU1F1 gene (homozygous p.I244S); the parents were carriers for this mutation.

Conclusion:

In humans, the relation between POU1F1 gene and CPP is not exactly known. In animal studies, it was shown that POU1F1 gene has effects on the GATA2 gene which has an important role on gonadotropin production and also plays a role in GnRH receptor gene functions, regulation of gonadotropin production, and in prevention of excess gonadotropin production. Further clinical and experimental studies are needed to detect the relation between POU1F1 functions and CPP.

Keywords: MPHD, CPP, POU1F1, GATA2