thyroid hormones (tH) exert their actions by binding nuclear receptors alpha (trα1) and beta (Trß1 and Trß2). resistance to thyroid hormone (rTh) is a clinical syndrome with various clinical manifestations, its hallmark being decreased tissue sensitivity to the action of thyroid hormones. we report the case of a family harbouring a novel Trß mutation. sequencing of the trβ gene revealed a single nucleotide substitution-c to G in codon 340: glutamine was replaced by glutamic acid. The clinical picture and biochemical and hormonal panel showed significant differences within the family, despite their sharing the same mutation. we also present the result of low-dose antithyroid treatment in one member of the family diagnosed with this rare condition.
We report a particular case of a spontaneously occurring pregnancy in a long-term amenorrheic patient due to a prolactinoma with high serum prolactin (PRL) following the failure of dopamine agonist therapy (DA) for infertility. Initially, clinical, laboratory, and genital ultrasounds were normal, but the serum PRL was 10,074 μIU/mL (n.v.: 127–637 μIU/mL), the PEG fraction was 71% (laboratory cut-off > 60%), and luteinizing hormone (LH) was significantly lower. An MRI revealed a pituitary tumor of 12.8/10 mm with a subacute intratumoral hemorrhage. DA was initiated, and menstrual bleeding reappeared with a reduction in the tumor’s volume to 1.9/2.2 mm at 12 months. Two years later, the patient renounced DA and follow-ups. After another 2 years, she became spontaneously pregnant. Serum PRL was 18,325 μIU/mL, and an MRI revealed a microprolactinoma of 2.1/2 mm. The patient gave birth to a normal baby at term, and she breastfed for six months, after which she asked for ablactation, and DA was administered. This case highlights the possibility of the occurrence of a normal pregnancy during a long period of amenorrhea induced by a microprolactinoma with a high level of serum PRL, even if DA fails to correct infertility. There was no compulsory relationship between the tumoral volume’s evolution and the evolution of its lactophore activity. The hypogonadotrophic hypogonadism induced by high PRL was mainly manifested by low LH, and in this situation, normal levels of FSH and estradiol do not always induce follicle recruitment and development without abnormalities in the ovary ultrasound.
Pericentromeric inversion of the heterochromatic region of chromosome 9 has been reported in almost 4% of the cases of male infertility. Objective: Determining the karyotype from an infertile couple scheduled to perform in vitro fertilization (IVF). Materials and methods: Slides with metaphasic chromosomes were GTG-banded according to standard protocol for cytogenetic analysis (karyotype). FISH analysis -inverted DAPI (4'-6-diamidino-2-phenylindole) staining was used to confirm the anomaly in chromosome structure. Results: The karyotype revealed modification of the heterochromatic region of both chromosome 9 in the male partner. The karyotype for female partner was normal. In case of male partner we suspected the pericentromeric inversion of the heterochromatic region of the long arm (q) of chromosome 9. Using Inverted-DAPI staining we confirmed the inversion on both chromosomes. Conclusion: Karyotyping followed by FISH is useful to select appropriate couples to improve the success rate of IVF. Further investigation of the hormonal profile and seminal liquid analyses for male partner will show the involvement of the chromosomal abnormality in the hypothalamic-pituitary-testicular axis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.