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- W2174637433 abstract "Background: (IGSF1) deficiency was recently found to be a novel cause of X-linked central hypothyroidism, macroorchidism, and delayed puberty. Case Presentation: We present a family, in which the proband was diagnosed with congenital central hypothyroidism by neonatal screening and treated accordingly. Further pituitary examination revealed an unmeasurable prolactin level, normal IGF-1, normal cortisol and no abnormalities of the pituitary on MRI. The patient exhibited normal growth and bone age. However, the patient had excessive weight gain and remarkable testicular enlargement (5-6cc). The enlargement was noticed first at 3.6 years of age and the macroorchidism was present at least until his last evaluation at age 12 years. At 6.3 years old, the patient still was still prepubertal at LHRH stimulation testing. A pubertal response to LHRH was first observed at 10.3 years old, when his testicular size was 10-12 cc. The proband’s brother was referred for short stature at age 13 years and he was found to have central hypothyroidism with a normal prolactin, normal GH secretion and low testosterone level for a testicular size of 25-28 cc (disharmonious pubertal development). His BMI was normal and besides poor growth, he did not have any manifestations of long standing, untreated hypothyroidism. The family was referred for genetics evaluation, which revealed that the index patient, his brother, mother and maternal grandfather carry a nonsense mutation in the IGSF1 gene, specifically c.3411_3412del.pTyr1137*. The main clinical characteristics of the IGSF1 deficiency syndrome are congenital hypothyroidism of central origin and macroorchidism. In a variable proportion of affected males, other features are observed, including prolactin deficiency (69%), partial and transient GH deficiency (22%), disharmonious pubertal development (normal timing of testicular growth but delayed rise of testosterone), and increased body mass index (BMI) (1). The IGSF1 Deficiency Syndrome: An Unusual Case" @default.
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- W2174637433 date "2015-01-01" @default.
- W2174637433 modified "2023-09-24" @default.
- W2174637433 title "The IGSF1 Deficiency Syndrome: An Unusual Case" @default.
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