Partial androgen insensitivity syndrome: Incidentally diagnosed in an adolescent
Background: Androgen insensitivity syndrome is an X-linked genetic disease characterized by resistance to the actions of androgen in an individual with 46, XY karyotype. It is one of the most common causes of Disorders of sex development (DSD).
A J Aparna +3 more
doaj +1 more source
Early Diagnosis and Management of Atypical-Appearing Genitalia
Robert Rapaport, Genna W. Klein
core +2 more sources
An unusual case of isolated unilateral palmar lichen nitidus
Lichen nitidus (LN) is a benign chronic eruption characterized by numerous asymptomatic papules on the body, clustered at specific sites of predilection like the dorsum of hands, abdomen, and genitalia. A 10-year-old boy presented to us with asymptomatic
Shreya Singh +2 more
doaj +1 more source
Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Egypt [PDF]
Two disorders, congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH), when untreated, can lead to devastating, irreversible and fatal outcomes.
Noura El-Bakry
doaj +1 more source
Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn [PDF]
Alterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology.
Mota, Céu +9 more
core +1 more source
Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes
Background: Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population.Objective: To investigate ...
Ani Amelia Zainuddin +9 more
doaj +1 more source
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development [PDF]
It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD.
Wallace, A. Michael +79 more
core +1 more source
Germ cell and other tumors in individuals with differences in sex development [PDF]
Selma Feldman Witchel +1 more
exaly +2 more sources
Mycoplasma pneumoniae-induced atypical Steven-Johnson syndrome: a diagnostic challenge
Background: Atypical Steven-Johnson syndrome is a rare disease that can be caused by Mycoplasma pneumoniae; it is characterized by respiratory symptoms, mucosal lesions of variable severity and constitutional symptoms, in the absence of cutaneous ...
Daniel Espinoza-Camacho +2 more
doaj +1 more source
Additive Manufacturing of Patient‐Specific Intracranial Aneurysm Cell Culture Models
Patient‐specific intracranial aneurysm models were fabricated using chocolate moulding, 3D printed water‐soluble cores, and direct resin 3D printing. Moulding PDMS around sacrificial cores made of chocolate or 3D printed water‐soluble resin yielded accurate, expandable, and endothelializable models that outperformed resin‐based approaches.
Chloe M. de Nys +6 more
wiley +1 more source

