Abstract


BackgroundArachnoid cyst, septo-optic dysplasia, brain tumors and cranial irradiation can cause multiple pituitary hormone deficiency (MPHD) and in these cases central precocious puberty (CPP) has been reported. However, CPP is rare in MPHD caused by deficiency of pituitary transcription factors. Precocious puberty causes delays in the diagnosis of growth hormone (GH) deficiency and may have adverse effects on adult height.
Aim To evaluate the early onset puberty in two patients with MPHD due to POU1F1 (PIT1)mutation. view more

BackgroundArachnoid cyst, septo-optic dysplasia, brain tumors and cranial irradiation can cause multiple pituitary hormone deficiency (MPHD) and in these cases central precocious puberty (CPP) has been reported. However, CPP is rare in MPHD caused by deficiency of pituitary transcription factors. Precocious puberty causes delays in the diagnosis of growth hormone (GH) deficiency and may have adverse effects on adult height.
Aim To evaluate the early onset puberty in two patients with MPHD due to POU1F1 (PIT1)mutation.
Cases  The patient presented for short stature at 18/12years of age. He was born at term (birth weight 0.6 SDS, birth length -1.2 SDS). No perinatal asphyxia was noted. At 3 months of age central hypothyroidism was diagnosed and L-thyroxine replacement was started. Parents were first degree cousins. He had severe short stature (-6.6 SDS) and prepubertal on clinical evaluation without any dysmorphism. He had GH and prolactin deficiency. Pituitary hypoplasia was detected on MRI. Puberty started at 7 9/12 years old with testicular enlargement and high LH level (1.2 mIU/ml) while he was on GH and L-thyroxine treatment. GnRH analogue was started at 8 years of age due to rapid progression of puberty and continued up to 11 years of age. In this patient with GH, TSH and prolactin deficiency a novel mutation was detected in POU1F1 gene (homozygote p.I244S).
The second patient, a six month old boy, was referred for growth retardation. He was born at term (birth weight: -1.0 SDS, birth length -0.8 SDS). He had no history of perinatal asphyxia. His parents were related. His weight and length were -1.9 and -2.7 SDS, respectively. GH, TSH and prolactin deficiency were detected. He had homozygote (c.10C>T) POU1F1 gene mutation. On replacement therapies, his puberty started before 10 years of age , relatively earlier with advanced bone age. Due to slow progression he had no treatment and was followed as physiological early puberty.
Conclusion Relation between POU1F1 gene and CPP or early puberty are not exactly explained in humans. In animal studies, it is reported that Pou1f1 gene has an important effect on regulation of GnRH receptor function and Gata2 gene. It has also been shown that this gene controls gonadotrope evolution and prevents excess gonadotrope levels. Further studies are needed to explain the relation between POU1F1 function and CPP.

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