scholarly journals Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report

2021 ◽  
Author(s):  
Haseena Sait ◽  
Priyanka Srivastava ◽  
Preeti Dabadghao ◽  
Shubha R Phadke
Keyword(s):  
Gc Content ◽  
Low Frequency ◽  
Tanner Stage ◽  
Kallmann Syndrome ◽  
Chromosome X ◽  
Case Presentation ◽  
Secondary Sexual Characteristics ◽  
Contiguous Gene ◽  
Sexual Characteristics ◽  
Interspersed Repeats

Background: Xp22.3 region is characterized by low frequency of interspersed repeats and low GC content. Several clinically important genes including ANOS1 (KAL1) reside in this region. This gene was first identified due to translocation between chromosomes X and Y in a patient with Kallmann syndrome. Case Presentation: A 20 year old male presented with complaints of delayed secondary sexual characteristics, impaired sense of smell, and poor scholastic performance. On examination, he had short stature (151 cm; <3rd centile). His sexual maturity corresponded to Tanner stage 3. Stretched penile length was 3.6 cm (<3rd centile). Right testis was undescended with low left testicular volume (12 ml). There was mild ichthyosis over abdomen and back. He had hyposmia, hoarse voice, and synkinesia. Investigations were suggestive of hypogonadotrophic hypogonadism. Karyotype revealed an extra chromosomal material on p arm of chromosome X (46,Xp+,Y). On cytogenetic microarray, deletion of 8.3 Mb on Xp22.33 region and duplication of 12.8 Mb on Yq11.22 region were identified. The breakpoint on X chromosome resulted in deletion of exons 7-14 of ANOS1 gene and complete STS, NLGN4X, ARSL (ARSE), SHOX, and VCX genes. Conclusion: Patients diagnosed with Kallmann syndrome should receive careful clinical evaluation to detect presence of a contiguous gene syndrome.

scholarly journals Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome

2017 ◽  
Vol 151 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Koki Nagai ◽  
Hirohito Shima ◽  
Miki Kamimura ◽  
Junko Kanno ◽  
Erina Suzuki ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Gc Content ◽  
Low Frequency ◽  
Kallmann Syndrome ◽  
Deletion Syndrome ◽  
Contiguous Gene ◽  
Nonallelic Homologous Recombination ◽  
Interspersed Repeats ◽  
Break Induced Replication ◽  
Contiguous Gene Deletion Syndrome

The Xp22.31 region is characterized by a low frequency of interspersed repeats and a low GC content. Submicroscopic deletions at Xp22.31 involving STS and ANOS1 (alias KAL1) underlie X-linked ichthyosis and Kallmann syndrome, respectively. Of the known microdeletions at Xp22.31, a common approximately 1.5-Mb deletion encompassing STS was ascribed to nonallelic homologous recombination, while 2 ANOS1-containing deletions were attributed to nonhomologous end-joining. However, the genomic bases of other microdeletions within the Xp22.31 region remain to be elucidated. Here, we identified a 2,735,696-bp deletion encompassing STS and ANOS1 in a boy with X-linked ichthyosis and Kallmann syndrome. The breakpoints of the deletion were located within Alu repeats and shared 2-bp microhomology. The fusion junction was not associated with nucleotide stretches, and the breakpoint-flanking regions harbored no palindromes or noncanonical DNA motifs. These results indicate that microhomology-mediated break-induced replication (MMBIR) can cause deletions at Xp22.31, resulting in contiguous gene deletion syndrome. It appears that interspersed repeats without other known rearrangement-inducing DNA features or high GC contents are sufficient to stimulate MMBIR at Xp22.31.

scholarly journals Turner's Syndrome: Approach to Diagnosis and Treatment

2018 ◽  
Vol 13 (3) ◽  
pp. 61-62
Author(s):  
Sadhana Sah ◽  
Ganesh Dangal ◽  
Aruna Karki ◽  
Hema Pradhan ◽  
Ranjana Shrestha ◽  
...  
Keyword(s):  
Short Stature ◽  
Estrogen Therapy ◽  
Tanner Stage ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Secondary Sexual Characteristics ◽  
Karyotypic Abnormality ◽  
Sexual Characteristics

Turner's syndrome is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It is characterized by short stature and absence of secondary sexual characteristics. It is diagnosed by increased plasma FSH and LH level with low level of estrogen i.e. hypergonadotrophic hypogonadism. Ultrasound abdomen reveals streak ovaries and atrophic uterus. Karyotype confirms the diagnosis of Turner's syndrome (45XO). We present here a 15 years girl who presented with primary amenorrhea with short stature with breast development corresponds to Tanner stage I. Her FSH was raised. Ultrasound abdomen showed uterine agenesis and streak ovaries. Karyotype showed 45XO which confirmed the diagnosis of Turner's syndrome. She is now on estrogen therapy and her height has increased and breast development corresponds to Tanner stage II. Keywords: hypergonadotrophic hypogonadism, primary amenorrhea, Turner's syndrome

Prophylactic gonadectomy in 46 XY females; why, where and when?

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Nurul Iftida Basri ◽  
Chong Hong Soon ◽  
Anizah Ali ◽  
Nur Azurah Abdul Ghani ◽  
Ani Amelia Zainuddin
Keyword(s):  
Histopathological Examination ◽  
Early Adulthood ◽  
Breast Development ◽  
Case Presentation ◽  
Female Patients ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Operative Assessment ◽  
Male Karyotype

Abstract Objectives We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy. Case presentation Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy. Conclusion Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.

scholarly journals Central Precocious Puberty in a Three-Year-Old Girl

2021 ◽  
Vol 27 (3) ◽  
pp. 341
Author(s):  
Suryani Jamal ◽  
Liong Boy Kurniawan ◽  
Suci Aprianti ◽  
Ratna Dewi Artati ◽  
Ruland DN Pakasi ◽  
...  
Keyword(s):  
Physical Examination ◽  
Precocious Puberty ◽  
Tanner Stage ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Breast Development ◽  
Hypothalamic Hamartoma ◽  
Secondary Sexual Characteristics ◽  
Pelvic Ultrasonography ◽  
Sexual Characteristics

Precocious puberty is defined as the onset of secondary sexual characteristics before 8 years of age in girls and 9 years in boys. Central Precocious Puberty (CPP) is caused by early activation of the hypothalamic-pituitary-gonadal axis. Laboratory test of LH, FSH, and Estradiol is recommended for monitoring suppressive effects from GnRHa therapy in the early three months and every six months. This study aimed to report a case of CPP in a 3-year and 3-month-old girl. A 3-year and 3-month-old girl went to the hospital with vaginal bleeding (menstruation), breast development, and pubic and axilla hair for 7-month-old. Physical examination found moderately ill with obesity, body weight 20 kg, height 98 cm. Tanner stage was A2M3P2, café au lait was found in the left forehead with size 7x3.5 cm. In March 2015 before GnRHa therapy, LH, FSH and Estradiol level increased with levels of 4.32 mlU/mL, 6.01 mlU/mL, and 67 pg/mL, and after 3 months of the treatment was 0.87 mlU/mL, 2.51 mlU/mL and <20 pg/mL. Pelvic ultrasonography showed suggestive precocious puberty, bone age 5-year and 9-month (Greulich and Pyle), CT-Scan of the brain showed hypothalamic tumor suspected hypothalamic hamartoma. This patient was treated with a GnRHa injection every 4 weeks. Leuprorelin is a synthetic non-peptide analogue of natural GnRH. The diagnosis was based on medical history, physical examination, laboratory, and radiological findings. The prognosis of the patient was good.

scholarly journals Obesity accelerates secondary sexual maturity in girls

2012 ◽  
Vol 52 (4) ◽  
pp. 213
Author(s):  
Meirina Sari ◽  
Endy Paryanto Prawirohartono ◽  
Madarina Julia
Keyword(s):  
Health Effects ◽  
Sexual Maturation ◽  
Sexual Maturity ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Stage Ii ◽  
Secondary Sexual Characteristics ◽  
Hazard Ratios ◽  
Sexual Characteristics ◽  
Secondary Sexual

Background Worldwide incidence of obesity in children isincreasing. Obesity may have many health effects includingadvancement of sexual maturity.Objective T he aim of this study was to assess the timing ofsecondary sexual maturation in obese vs. non􀁄obese girls.Methods Subjects were 105 obese and 105 non􀁄obese girls, aged7 to 8 years who had not entered puberty. Breast and pubic hairgrowth, secondary sexual characteristics, were assessed at baselineand every 4 months for two years. Onset of puberty was defined asTanner stage for secondary sexual maturation of 2: breast Tannerstage II (B2) and/or 2: pubic hair Tanner stage II (P2). Survivalanalyses were used to estimate time to puberty in both groups.Cox regressions were used to analyze possible factors affectingsecondary sexual maturation.Results Mean onset of breast budding (B2) was 7.8 (95% CI 7.7to 7.8) years in obese girls vs. 8.6 (95% CI 8.5 to 8.6) years innon􀁄obese girls (P<O.OOl). Mean onset of pub arc he (P2) was 8.7(95% CI 8.6 to 8.8) years in obese girls vs. 9.0 (95% CI 8.9 to 9.0)years in non􀁄obese girls (P<O.OOl). Hazard ratios of obese girlsto experience an earlier secondary sexual maturation at maturitylevel B2, B3 and P2 were 1.34 (95% CI 1.19 to 1.52), 6.91 (95%CI 3.90 to 12.24) and 3.78 (95% CI 2.42 to 5.89), respectively.Conclusions Obesity was associated with earlier onset ofpuberty in girls. Obese girls entered puberty approximately 3 to9 months earlier than their non􀁄obese peers. [Paediatr Indones.2012;52:213-8].

Aromatase deficiency in an Ontario Old Order Mennonite family

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Sun Young Kim ◽  
Samantha Colaiacovo ◽  
Sumit Dave ◽  
Kevin Coughlin ◽  
Kristen Langdon ◽  
...  
Keyword(s):  
Cultural Sensitivity ◽  
Genetic Diagnosis ◽  
Ambiguous Genitalia ◽  
Late Presentation ◽  
Case Presentation ◽  
Secondary Sexual Characteristics ◽  
Old Order ◽  
Old Order Mennonite ◽  
Sexual Characteristics ◽  
Rare Autosomal Recessive Disease

Abstract Objectives Aromatase deficiency is a rare autosomal recessive disease that results in the absence of aromatase. In females it presents with ambiguous genitalia and lack of secondary sexual characteristics during puberty. Aromatase deficiency is not attributed to any specific population, but it is more commonly seen in consanguineous parents. Herein, we report the first Old Order Mennonite family with that diagnosis. Case presentation Our proband is an Old Order Mennonite female born with ambiguous genitalia who was identified to carry novel homozygous variant in the CYP19A1 gene c.1304G>A (p. Arg435His). Her older brother was later confirmed with the same genetic diagnosis. Conclusions Recognizing the cultural sensitivity, unrecognized affected cases, and late presentation of males affected with aromatase deficiency, this condition may be more prevalent than believed in that population.

scholarly journals Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia

2019 ◽  
Vol 12 (12) ◽  
pp. e230778
Author(s):  
Sílvia Cristina de Sousa Paredes ◽  
Olinda Marques ◽  
Marta Alves
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Tanner Stage ◽  
Breast Development ◽  
Adrenal Hyperplasia ◽  
Biochemical Tests ◽  
Hydroxylase Deficiency ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Proper Diagnosis ◽  
Partial Deficiency

Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency, a rare CAH syndrome, is characterised by failure to synthetise cortisol, adrenal androgens and gonadal steroids. The partial deficiency is much rarer, presenting with subtler symptoms. Failure to reach a proper diagnosis causes inappropriate hypertension treatment and impairs the development of secondary sexual characteristics. We report a case of a 30-year-old woman transferred to an endocrinology clinic for evaluation of autoimmune thyroiditis. She was started on oral contraceptives at the age of 13 due to oligomenorrhea and presented underdeveloped pubic and axillar hair and Tanner stage 3 breast development. Biochemical tests evidenced very low androgens levels and genetic analysis confirmed a CAH due to 17α-hydroxylase deficiency. Partial 17α-hydroxylase deficiency is a rare clinical entity, nevertheless, it should be included in the differential diagnosis of menstrual disorders.

scholarly journals Postinjection Muscle Fibrosis from Lupron

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
Erica Everest ◽  
Laurie A. Tsilianidis ◽  
Nouhad Raissouni ◽  
Tracy Ballock ◽  
Terra Blatnik ◽  
...  
Keyword(s):  
Adult Height ◽  
Tanner Stage ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Left Breast ◽  
Breast Development ◽  
Muscle Fibrosis ◽  
Secondary Sexual Characteristics ◽  
Hormone Analog ◽  
Sexual Characteristics

We describe the case of a 6.5-year-old girl with central precocious puberty (CPP), which signifies the onset of secondary sexual characteristics before the age of eight in females and the age of nine in males as a result of stimulation of the hypothalamic-pituitary-gonadal axis. Her case is likely related to her adoption, as children who are adopted internationally have much higher rates of CPP. She had left breast development at Tanner Stage 2, adult body odor, and mildly advanced bone age. In order to halt puberty and maximize adult height, she was prescribed a gonadotropin releasing hormone analog, the first line treatment for CPP. She was administered Lupron (leuprolide acetate) Depot-Ped (3 months) intramuscularly. After her second injection, she developed swelling and muscle pain at the injection site on her right thigh. She also reported an impaired ability to walk. She was diagnosed with muscle fibrosis. This is the first reported case of muscle fibrosis resulting from Lupron injection.

Sex determination and Y chromosome constitutive heterochromatin

2019 ◽  
Vol 1 (1) ◽  
pp. 1-5
Author(s):  
Abyt Ibraimov
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Constitutive Heterochromatin ◽  
Sex Differentiation ◽  
Secondary Sexual Characteristics ◽  
Biological Meaning ◽  
Heterochromatin Block ◽  
Sexual Characteristics ◽  
Open Question ◽  
Efficient Elimination

In many animals, including us, the genetic sex is determined at fertilization by sex chromosomes. Seemingly, the sex determination (SD) in human and animals is determined by the amount of constitutive heterochromatin on Y chromosome via cell thermoregulation. It is assumed the medulla and cortex tissue cells in the undifferentiated embryonic gonads (UEG) differ in vulnerability to the increase of the intracellular temperature. If the amount of the Y chromosome constitutive heterochromatin is enough for efficient elimination of heat difference between the nucleus and cytoplasm in rapidly growing UEG cells the medulla tissue survives. Otherwise it doomed to degeneration and a cortex tissue will remain in the UEG. Regardless of whether our assumption is true or not, it remains an open question why on Y chromosome there is a large constitutive heterochromatin block? What is its biological meaning? Does it relate to sex determination, sex differentiation and development of secondary sexual characteristics? If so, what is its mechanism: chemical or physical? There is no scientifically sound answer to these questions.

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