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.

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 Heptoblastoma as a Rare Cause of Precocious Puberty

1970 ◽  
Vol 1 (2) ◽  
pp. 28-32
Author(s):  
Md Abu Taher ◽  
AHM Abdul Fattah ◽  
Dilruba Khandker ◽  
Abu Saleh Mohiuddin ◽  
Md Mahfuzar Rahman ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Histopathological Examination ◽  
Ambiguous Genitalia ◽  
Adrenal Tumors ◽  
Imaging Features ◽  
Adrenal Hyperplasia ◽  
Testicular Tumors ◽  
Primary Liver Tumor ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics

A 15-month old boy presented with an abdominal swelling and early development of secondary sexual characteristics for the last 5 months. The mass was initially suspected to be of adrenal origin. Radiological and biochemical (hormonal) findings diagnosed the case to be a hepatoblastoma later confirmed by histopathological examination. Hepatoblastoma, an aggressive primary liver tumor, is a rare form of childhood malignancy and a rare cause of precocious puberty compared to the more common adrenal causes including congenital adrenal hyperplasia, adrenal tumors and the testicular tumors. Thus, when virilization occurs postnatally in boys, or girls presenting with ambiguous genitalia at birth, a virilizing adrenocortical tumor is usually given the first consideration (according to its frequency of incidence), followed by CNS causes. Rarely does one think of the other possibilities. This report describes the typical presentations and clinical features of hepatoblastoma highlighting its usual radiological features. Ibrahim Med. Coll. J. 2007; 1(2): 28-32 Key Words: Hepatoblastoma, precocious puberty, imaging features.   doi: 10.3329/imcj.v1i2.2907  

scholarly journals Multifunctional role of steroidogenic factor 1 and disorders of sex development

2011 ◽  
Vol 55 (8) ◽  
pp. 607-612 ◽  
Author(s):  
Maricilda Palandi de Mello ◽  
Emerson Salvador de Souza França ◽  
Helena Campos Fabbri ◽  
Andréa Trevas Maciel-Guerra ◽  
Gil Guerra-Júnior
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Gonadal Differentiation ◽  
Steroidogenic Factor 1 ◽  
Functional Roles ◽  
Secondary Sexual Characteristics ◽  
Delayed Onset ◽  
Sex Development ◽  
Sexual Characteristics

Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1.

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.

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.

Reproductive failure of the red shiner (Cyprinella lutrensis) after exposure to an exogenous estrogen

2010 ◽  
Vol 67 (11) ◽  
pp. 1730-1743 ◽  
Author(s):  
Michelle M. McGree ◽  
Dana L. Winkelman ◽  
Nicole  K.M.  Vieira ◽  
Alan  M.  Vajda
Keyword(s):  
Reproductive Success ◽  
Great Plains ◽  
Endocrine Disrupting Chemicals ◽  
Water Control ◽  
Secondary Sexual Characteristics ◽  
Cyprinella Lutrensis ◽  
The Us ◽  
Sexual Characteristics ◽  
Solvent Control ◽  
17Β Estradiol

Endocrine disrupting chemicals (EDCs) have been detected in surface waters worldwide and can lead to developmental and reproductive disruption in exposed fishes. In the US Great Plains, EDCs are impacting streams and rivers and may be causing adverse reproductive effects. To examine how estrogenic EDCs might affect reproductive success of plains fishes, we experimentally exposed male red shiners ( Cyprinella lutrensis ) to exogenous 17β-estradiol. We characterized the effects of estradiol on male gonadal histology and secondary sexual characteristics, determined whether exposure reduced reproductive success, and examined the effects of depuration. Adults were exposed to a mean concentration of 70 ng·L−1 estradiol, a solvent control, or a water control for at least 83 days. Male exposure to estradiol resulted in elevated plasma vitellogenin concentrations, changes in spermatogenesis, reduced mating coloration and tubercles, altered mating behaviors, and reduced reproductive success with no viable progeny produced. Reproductive endpoints improved upon depuration (28 days). Exposure to estradiol had significant adverse effects on red shiners, indicating that wild populations may face developmental and reproductive difficulties if they are chronically exposed to estradiol.

Comparative urogenital morphology and external sex determination in muskellunge, Esox masquinongy Mitchill

1989 ◽  
Vol 67 (4) ◽  
pp. 1053-1060 ◽  
Author(s):  
Bernard Lebeau ◽  
Gérard Pageau
Keyword(s):  
Ventral Surface ◽  
Northern Pike ◽  
Structural Basis ◽  
Simple Method ◽  
Esox Masquinongy ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Spawning Behaviour ◽  
Accurate Indicator ◽  
Secondary Sexual

Primary and secondary sexual characteristics in northern pike, Esox lucius Linneaus, and muskellunge, Esox masquinongy Mitchill, differ markedly. Differences in the internal urogenital anatomy include the structure of the genital ducts and the angle they form with the ventral surface. Externally, the genital and urinary ducts open directly to the environment in northern pike, whereas in muskellunge they open into a muscular papilla and then through a urogenital pore. Differences in sexual dimorphism between the two closely related esocids constitute a structural basis to explain the known differences in spawning behaviour and reproductive success. Differences in secondary sexual characteristics explain why the methods developed by Demchenko or Casselman to externally sex pike are inapplicable to muskellunge. To develop and test two external sexing techniques for muskellunge, specimens were collected from two regions in Canada from 1980 to 1987. Examination of reproductive products obtained from stripping provided an accurate indicator of sex and sexual maturity, but demonstrated serious limitations. A simple method to sex muskellunge by examination of the external urogenital morphology is described for juveniles and adults. Dissection of fish revealed that with the urogenital examination technique we sexed juveniles with a success rate of 92–98%, and adults with 100% accuracy.

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