The genetics and hormonal basis of human gender identity

RL Batista, LMB Oliveira - Archives of Endocrinology and Metabolism, 2024 - SciELO Brasil
Gender identity refers to one's psychological sense of their own gender. Establishing gender
identity is a complex phenomenon, and the diversity of gender expression challenges …

46, XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility …

MR Stancampiano, SLC Meroni, C Bucolo… - Frontiers in …, 2024 - frontiersin.org
The term 'differences of sex development'(DSD) refers to a group of congenital conditions
that are associated with atypical development of chromosomal, gonadal, and/or anatomical …

Identification of novel variants and candidate genes in women with 46, XX complete gonadal dysgenesis

L Ding, S Deng, P Zhang, D Zhang, Q Tian - Reproductive Biology and …, 2024 - Springer
Background 46, XX complete gonadal dysgenesis (46, XX-CGD) is a rare disorder of sexual
development (DSD) characterized by primary amenorrhea and a lack of spontaneous …

Diagnosis and management of non-CAH 46, XX disorders/differences in sex development

Z Yavas Abalı, T Guran - Frontiers in Endocrinology, 2024 - frontiersin.org
Prenatal-onset androgen excess leads to abnormal sexual development in 46, XX
individuals. This androgen excess can be caused endogenously by the adrenals or gonads …

Telomere Dysfunction in Pediatric Patients with Differences/Disorders of Sexual Development

H Younoussa, M Gadji, M Soumboundou, B Colicchio… - Biomedicines, 2024 - mdpi.com
Differences/Disorders of sex development (DSDs) are conditions in which the development
of chromosomal, gonadal, and anatomical sexes is atypical. DSDs are relatively rare, but …

Determination of Barr bodies in Transgender Patients in India–A comparative study

A Lakshmi, A James, R Annasamy… - Journal of Oral and …, 2023 - journals.lww.com
Sex determination in forensic medicine is considered one of the first and foremost steps in
personal identification. The need for identifying the exact sex of the individual arises when …

Ovotesticular Disorder of Sex Development Presenting as a Scrotal Emergency

J Zhao, J Zhu, S Ding, H Li - Pediatrics, 2023 - publications.aap.org
Ovotesticular (OT) disorder of sex development (DSD) is a rare condition that affects the
development of reproductive organs and manifests in a wide range of phenotypic …

A 22q13.1 duplication in mosaicism including SOX10

W Bertani‐Torres, M Serey‐Gaut… - American Journal of …, 2023 - Wiley Online Library
Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing
loss and pigmentation abnormalities. Among the four types, WS Type 2 (WS2) is the only …

Algorithm for Management of Children with DSD

K Sharma, SK Ratan - Children with Differences in Sex Development …, 2024 - Springer
A child with ambiguous genitalia has always been considered more of a social emergency
than a medical emergency. The management of a child with disorders of sexual …

An offbeat presentation of primary male infertility: de la Chapelle syndrome

A Saraswat, N Nagaraja, BK Chakrabarty… - Medical Journal Armed …, 2023 - Elsevier
Abstract In 20-30% cases of infertility, a primary defect is found in the male partner and
contribute to 50% of patients overall. Studies have shown that the prevalence of both …